Name		Synonyms
Seizures		Epilepsy Seizure

Primary ID		Alternative IDs
HP:0001250		HP:0001275 HP:0001303 HP:0002125 HP:0002182 HP:0002279 HP:0002306 HP:0002348 HP:0002391 HP:0002417 HP:0002430 HP:0002431 HP:0002432 HP:0002434 HP:0002437 HP:0002466 HP:0002479 HP:0002794 HP:0006997 HP:0010520

Term definition
Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

Super-classes (vis)		Sub-classes (vis)
Abnormality of the central nervous system		Generalized seizures ; Dialeptic seizures ; Focal seizures ; Febrile seizures ; Status epilepticus ; Symptomatic seizures ; Epileptic spasms

PURL-link
http://purl.obolibrary.org/obo/HP_0001250

Diseases / genes associated with this term

Disease		Gene(s)
WOLF-HIRSCHHORN SYNDROME
1P36 MICRODELETION SYNDROME
ANGELMAN SYNDROME (TYPE 1)
XQ28 (MECP2) DUPLICATION
2Q33.1 DELETION SYNDROME
ANGELMAN SYNDROME (TYPE 2)
15Q13.3 MICRODELETION SYNDROME
ADAMS-OLIVER SYNDROME		ARHGAP31
ACROMEGALOID FACIAL APPEARANCE SYNDROME
ADENYLOSUCCINASE DEFICIENCY		ADSL
ADIPOSIS DOLOROSA
#103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE		GNAS
ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY
#104290 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1		ATP1A2
#105210 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED;;HEREDITARY AMYLOIDOSIS, TRANSTHYRETIN-RELATED;;TRANSTHYRETIN AMYLOIDOSIS;;AMYLOID POLYNEUROPATHY, FAMILIAL; FAPAMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, INCLUDED;;AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED, INCLUDED		TTR
ANGELMAN SYNDROME		CDKL5 ; MECP2 ; UBE3A
ANGIOMA, HEREDITARY NEUROCUTANEOUSSPINAL ARTERIAL VENOUS MALFORMATIONS WITH CUTANEOUS HEMANGIOMAS, INCLUDED
APNEA, OBSTRUCTIVE SLEEP
ARTERITIS, FAMILIAL GRANULOMATOUS, WITH JUVENILE POLYARTHRITIS
%108650 SPASTIC ATAXIA 7, AUTOSOMAL DOMINANT; SPAX7;;SPASTIC ATAXIA WITH CONGENITAL MIOSIS;;MIOSIS, CONGENITAL, WITH SPASTIC ATAXIA
BEHCET SYNDROME
#113620 BRANCHIOOCULOFACIAL SYNDROME; BOFS;;BOF SYNDROME;;BRANCHIAL CLEFTS WITH CHARACTERISTIC FACIES, GROWTH RETARDATION, IMPERFORATENASOLACRIMAL DUCT, AND PREMATURE AGING;;HEMANGIOMATOUS BRANCHIAL CLEFTS-LIP PSEUDOCLEFT SYNDROME;;LIP PSEUDOCLEFT-HEMANGIOMATOUS BRANCHIAL CYST SYNDROME		TFAP2A
%114100 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET;;IBGC, CHILDHOOD-ONSET;;STRIOPALLIDODENTATE CALCINOSIS, BILATERAL, CHILDHOOD-ONSET;;CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET
#115150 CARDIOFACIOCUTANEOUS SYNDROME;;CFC SYNDROME;;CFCS		MAP2K1 ; MAP2K2 ; KRAS ; BRAF
#116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM;;CAVERNOUS ANGIOMA, FAMILIAL;;CAVERNOUS ANGIOMATOUS MALFORMATIONS; CAM;;CEREBRAL CAPILLARY MALFORMATIONSCEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED;;CAVERNOUS MALFORMATIONS OF CNS AND RETINA, INCLUDED;;HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATEDWITH CEREBRAL CAPILLARY MALFORMATIONS, INCLUDED		KRIT1
CENTRALOPATHIC EPILEPSY
#117550 SOTOS SYNDROME 1; SOTOS1;;SOTOS SYNDROME;;CEREBRAL GIGANTISM;;CHROMOSOME 5Q35 DELETION SYNDROME		NSD1
CHOREOATHETOSIS, FAMILIAL INVERTED
#119540 CLEFT PALATE, ISOLATED; CPI;;CLEFT PALATE; CPCLEFT PALATE, ISOLATED, AND MENTAL RETARDATION, INCLUDED		SATB2 ; UBB
COCHLEOSACCULAR DEGENERATION OF THE INNER EAR WITH PROGRESSIVE CATARACTS
#120330 PAPILLORENAL SYNDROME;;RENAL-COLOBOMA SYNDROME;;OPTIC NERVE COLOBOMA WITH RENAL DISEASE;;COLOBOMA OF OPTIC NERVE WITH RENAL DISEASE;;OPTIC COLOBOMA, VESICOURETERAL REFLUX, AND RENAL ANOMALIES;;RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIESRENAL HYPOPLASIA, ISOLATED, INCLUDED		PAX2
#121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED;;SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA, INCLUDED		KCNQ2
#121201 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2;;CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; BFNC2		KCNQ3
%121210 FEBRILE SEIZURES, FAMILIAL, 1; FEB1;;CONVULSIONS, FAMILIAL FEBRILE; 1		FEB1
COPPER DEFICIENCY, FAMILIAL BENIGN
#122470 CORNELIA DE LANGE SYNDROME 1; CDLS1;;CDLS;;CDL;;TYPUS DEGENERATIVUS AMSTELODAMENSIS;;DE LANGE SYNDROME;;BRACHMANN-DE LANGE SYNDROME; BDLS		NIPBL
CORTICOTROPIN-RELEASING HORMONE		CRH
#123500 CROUZON SYNDROME;;CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;;CROUZON CRANIOFACIAL DYSOSTOSIS		FGFR2
#124000 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1		BCS1L
#124200 DARIER-WHITE DISEASE; DAR;;KERATOSIS FOLLICULARIS;;DARIER DISEASE; DDDARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED;;DARIER DISEASE, SEGMENTAL, INCLUDED		ATP2A2
#125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTSAND LEUKOENCEPHALOPATHY; CADASIL;;DEMENTIA, HEREDITARY MULTI-INFARCT TYPE;;CASIL		NOTCH3
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY NAITO-OYANAGI DISEASE HAW RIVER SYNDROME ATAXIA, CHOREA, SEIZURES, AND DEMENTIA		ATN1
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL		AQP2
KENNY-CAFFEY SYNDROME, TYPE 2
#128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1;;PAROXYSMAL KINESIGENIC CHOREOATHETOSIS; PKC;;PAROXYSMAL KINESIGENIC DYSKINESIA; PKD;;DYSTONIA, FAMILIAL PAROXYSMAL;;DYSTONIA 10; DYT10		DYT10 ; PRRT2
EDINBURGH MALFORMATION SYNDROME
EPILEPSY, BENIGN OCCIPITAL
EPILEPSY, READING
COCKAYNE SYNDROME, TYPE B		ERCC6
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA		ACVR1
#135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA;;FIBROMATOSIS, GINGIVAL, WITH HYPERTRICHOSIS;;CHROMOSOME 17Q24.2-Q24.3 DELETION SYNDROME;;MICRODELETION 17Q24.2-Q24.3 SYNDROME
%135500 ZIMMERMANN-LABAND SYNDROME; ZLS;;LABAND SYNDROME;;FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE ANDEARS, AND SPLENOMEGALY
#135900 COFFIN-SIRIS SYNDROME; CSS;;FIFTH DIGIT SYNDROME
FLYNN-AIRD SYNDROME
#136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED		FRA16A
GIANT PIGMENTED HAIRY NEVUS
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE		SMAD4
%141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA;;PARRY-ROMBERG SYNDROME
#141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1;;FHM;;MHP1MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,INCLUDED;;MIGRAINE, SPORADIC HEMIPLEGIC, INCLUDED		CACNA1A
#141750 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DELETION-TYPE;;ATR-16 SYNDROME;;ATR, DELETION-TYPE;;HEMOGLOBIN H-RELATED MENTAL RETARDATION; HBHR;;MENTAL RETARDATION WITH HEMOGLOBIN H;;CHROMOSOME 16P DELETION SYNDROME
HYPOPARATHYROIDISM, FAMILIAL ISOLATED		GCM2 ; PTH ; CASR
#146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; HDR;;HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME;HDRS;;BARAKAT SYNDROME;;NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM		GATA3
#146510 PALLISTER-HALL SYNDROME; PHS;;HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, ANDPOSTAXIAL POLYDACTYLY		GLI3
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR FUSED INCISORS SINGLE UPPER CENTRAL INCISOR SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED SMMCI SYNDROME, INCLUDED		SHH
JACOBSEN SYNDROME		JBS
#147920 KABUKI SYNDROME 1; KABUK1;;KABUKI SYNDROME;;KABUKI MAKE-UP SYNDROME; KMS;;NIIKAWA-KUROKI SYNDROME		KMT2D
%149000 KLIPPEL-TRENAUNAY-WEBER SYNDROME;;KTW SYNDROME;;KLIPPEL-TRENAUNAY SYNDROME; KTS;;ANGIOOSTEOHYPERTROPHY SYNDROME
HYPEREKPLEXIA, HEREDITARY		GLRA1
SYSTEMIC LUPUS ERYTHEMATOSUS		TREX1
#152950 MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTALRETARDATION; MCLMR;;MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME;;MLCRD SYNDROME;;MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION,AUTOSOMAL DOMINANT;;CDMMR SYNDROME;;LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;;LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS		KIF11
#153480 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS;;BANNAYAN-ZONANA SYNDROME; BZS;;RILEY-SMITH SYNDROME;;RUVALCABA-MYHRE-SMITH SYNDROME; RMSS;;MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA;;MACROCEPHALY, MULTIPLE LIPOMAS, AND HEMANGIOMATA		PTEN
#154020 HYPOMAGNESEMIA 2, RENAL; HOMG2;;MAGNESIUM WASTING, RENAL;;MAGNESIUM LOSS, ISOLATED RENAL		FXYD2
#156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1CHROMOSOME 2Q23.1 DELETION SYNDROME, INCLUDED		MBD5
#157170 HOLOPROSENCEPHALY 2; HPE2		SIX3
#158170 CHROMOSOME 9P DELETION SYNDROME;;MONOSOMY 9P SYNDROME
#158350 COWDEN DISEASE; CD;;COWDEN SYNDROME; CS;;MULTIPLE HAMARTOMA SYNDROME; MHAMDYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM, INCLUDED;;CEREBELLOPARENCHYMAL DISORDER VI, INCLUDED; CPD6, INCLUDED;;CEREBELLAR GRANULE CELL HYPERTROPHY AND MEGALENCEPHALY, INCLUDED;;LHERMITTE-DUCLOS DISEASE, INCLUDED; LDD, INCLUDED;;PROTEUS-LIKE SYNDROME, INCLUDED		PTEN
#158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1;;FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FSHD; FMD;;MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A;;LANDOUZY-DEJERINE MUSCULAR DYSTROPHYFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED;;FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS ANDTORTUOSITY OF RETINAL ARTERIOLES, INCLUDED		FSHMD1A
MYOCLONIC EPILEPSY, HARTUNG TYPE
MYOCLONUS AND ATAXIA
MYOCLONUS, CEREBELLAR ATAXIA, AND DEAFNESS
MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY		ASAH1
#160120 EPISODIC ATAXIA, TYPE 1; EA1;;EPISODIC ATAXIA WITH MYOKYMIA; EAM;;ATAXIA, EPISODIC, WITH MYOKYMIA; AEM; AEMK;;PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY;;MYOKYMIA WITH PERIODIC ATAXIAMYOKYMIA 1, INCLUDED;;CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED;;ISAACS-MERTENS SYNDROME, INCLUDED;;MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED		KCNA1
#162200 NEUROFIBROMATOSIS, TYPE I; NF1;;NEUROFIBROMATOSIS, PERIPHERAL TYPE;;VON RECKLINGHAUSEN DISEASE		NF1
CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT		DNAJC5
NEVI FLAMMEI, FAMILIAL MULTIPLE
#163200 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM;;SFM SYNDROME;;LINEAR SEBACEOUS NEVUS SYNDROME;;SEBACEOUS NEVUS SYNDROME, LINEAR;;JADASSOHN NEVUS PHAKOMATOSIS; JNP;;NEVUS SEBACEUS OF JADASSOHN;;ORGANOID NEVUS PHAKOMATOSIS;;EPIDERMAL NEVUS SYNDROME, FORMERLY		HRAS ; KRAS
OCULOCEREBROCUTANEOUS SYNDROME
PARIETAL FORAMINA		MSX2
PATTERSON PSEUDOLEPRECHAUNISM SYNDROME
PELGER-HUET ANOMALY		LBR
+170993 PEROXISOME BIOGENESIS FACTOR 2; PEX2;;PEROXISOMAL MEMBRANE PROTEIN 3; PXMP3;;PEROXISOMAL MEMBRANE PROTEIN, 35-KD; PMP35;;PEROXISOMAL ASSEMBLY FACTOR 1; PAF1;;PEROXIN 2ZELLWEGER SYNDROME 3, INCLUDED; ZWS3, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED		PEX2
*170995 ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3; ABCD3;;PEROXISOMAL MEMBRANE PROTEIN 1; PXMP1;;PEROXISOMAL MEMBRANE PROTEIN, 70-KD; PMP70		ABCD3
172500 PHOTOMYOCLONUS, DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRALDYSFUNCTION;;HERRMANN SYNDROME
175500 POLYPOSIS, SKIN PIGMENTATION, ALOPECIA, AND FINGERNAIL CHANGES;;CRONKHITE-CANADA SYNDROME
#175700 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS;;POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE		GLI3
PORENCEPHALY, FAMILIAL		COL4A1
#176000 PORPHYRIA, ACUTE INTERMITTENT;;AIP;;PORPHYRIA, SWEDISH TYPE;;PORPHOBILINOGEN DEAMINASE DEFICIENCY;;PBGD DEFICIENCY;;UROPORPHYRINOGEN SYNTHASE DEFICIENCY;;UPS DEFICIENCYPORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED;;PORPHYRIA, CHESTER TYPE, INCLUDED; PORC, INCLUDED		HMBS
#176270 PRADER-WILLI SYNDROME; PWS;;PRADER-LABHART-WILLI SYNDROMEPRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, INCLUDED		SNRPN ; NDN
#176920 PROTEUS SYNDROME;;GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, ANDMACROCEPHALYELATTOPROTEUS SYNDROME, INCLUDED		AKT1
#177980 PTERYGIA, MENTAL RETARDATION, AND DISTINCTIVE CRANIOFACIAL FEATURES;;HASPESLAGH SYNDROME
#179613 RECOMBINANT CHROMOSOME 8 SYNDROME;;REC8 SYNDROME;;CHROMOSOME 8Q22.1-QTER DUPLICATION AND 8PTER-P23.1 DELETION;;SAN LUIS VALLEY SYNDROME
#180849 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1;;RUBINSTEIN SYNDROME;;BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION;;BROAD THUMB-HALLUX SYNDROME		CREBBP
180870 RUVALCABA SYNDROME
SCHOLTE SYNDROME
%181750 SCLERODERMA, FAMILIAL PROGRESSIVE;;SYSTEMIC SCLEROSIS, SUSCEPTIBILITY TOCREST SYNDROME, INCLUDED
#182230 SEPTOOPTIC DYSPLASIA;;DE MORSIER SYNDROMEPITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;;GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, INCLUDED		HESX1
#182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17P11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED		RAI1
SNEDDON SYNDROME
182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPEMR
SPLENOGONADAL FUSION WITH LIMB DEFECTS AND MICROGNATHIA
STURGE-WEBER SYNDROME
SUPRABULBAR PARESIS, CONGENITAL
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER		ENG
THANATOPHORIC DYSPLASIA, TYPE I		FGFR3
#188400 DIGEORGE SYNDROME; DGS;;CHROMOSOME 22Q11.2 DELETION SYNDROME;;HYPOPLASIA OF THYMUS AND PARATHYROIDS;;THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEDIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED;;TAKAO VCF SYNDROME, INCLUDED;;CATCH22, INCLUDED		DGCR ; TBX1
PREECLAMPSIA/ECLAMPSIA 1		PEE1
#191100 TUBEROUS SCLEROSIS 1; TSC1;;TUBEROUS SCLEROSIS COMPLEX; TSC;;TUBEROSE SCLEROSIS; TS		TSC1
#192315 VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL;;CEREBRORETINAL VASCULOPATHY, HEREDITARY; CRV;;RETINOPATHY, VASCULAR, WITH CEREBRAL AND RENAL INVOLVEMENT AND RAYNAUDAND MIGRAINE PHENOMENA		TREX1
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT		FGF23
WATSON SYNDROME		NF1
#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA		MYH3
#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4P16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME		WHCR
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION
#200150 CHOREOACANTHOCYTOSIS; CHAC;;LEVINE-CRITCHLEY SYNDROME;;ACANTHOCYTOSIS WITH NEUROLOGIC DISORDER;;NEUROACANTHOCYTOSIS;;CHOREA-ACANTHOCYTOSIS		VPS13A
#200990 ACROCALLOSAL SYNDROME; ACLS;;HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM;;SCHINZEL ACROCALLOSAL SYNDROMEJOUBERT SYNDROME 12, INCLUDED; JBTS12, INCLUDED;;JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED		KIF7 ; ACLS
#201450 ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD;;ACADM DEFICIENCY;;MCAD DEFICIENCY;;MCADH DEFICIENCY;;CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-COA DEHYDROGENASEDEFICIENCY		ACADM
ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF		ACADS
GLUCOCORTICOID DEFICIENCY 1		MC2R
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM		PEX5
ALEXANDER DISEASE		GFAP
203600 ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN;;MOYNAHAN ALOPECIA SYNDROME
#203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A;;ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS;;ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY;;ALPERS SYNDROME;;ALPERS-HUTTENLOCHER SYNDROME;;NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE;PNDC		POLG
#203800 ALSTROM SYNDROME; ALMS;;ALSS		ALMS1
CEROID LIPOFUSCINOSIS, NEURONAL, 3		CLN3
CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE		CLN6
CEROID LIPOFUSCINOSIS, NEURONAL, 2		TPP1
%206570 ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT;;DIVRY-VAN BOGAERT SYNDROME
TAKAYASU ARTERITIS
#207800 ARGININEMIA;;ARGINASE DEFICIENCY;;HYPERARGININEMIA;;ARG1 DEFICIENCY		ARG1
ARGININOSUCCINIC ACIDURIA		ASL
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE
#208400 ASPARTYLGLUCOSAMINURIA; AGU;;GLYCOSYLASPARAGINASE DEFICIENCY;;ASPARTYLGLUCOSAMINIDASE DEFICIENCY;;AGA DEFICIENCY;;GLYCOASPARAGINASE;;ASPARTYLGLYCOSAMINURIA		AGA
ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA
#208900 ATAXIA-TELANGIECTASIA; AT;;AT1;;LOUIS-BAR SYNDROMEAT, COMPLEMENTATION GROUP A, INCLUDED; ATA, INCLUDED;;AT, COMPLEMENTATION GROUP C, INCLUDED; ATC, INCLUDED;;AT, COMPLEMENTATION GROUP D, INCLUDED; ATD, INCLUDED;;AT, COMPLEMENTATION GROUP E, INCLUDED; ATE, INCLUDED;;ATAXIA-TELANGIECTASIA VARIANT, INCLUDED		ATM
ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS,PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
AUTISM
#209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS;;AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITALONDINE-HIRSCHSPRUNG DISEASE, INCLUDED; OHD, INCLUDED;;CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED;;HADDAD SYNDROME, INCLUDED		BDNF ; RET ; ASCL1 ; PHOX2B ; EDN3 ; GDNF
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION
#210200 3-@METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY;;MCCD TYPE 1;;MCC1 DEFICIENCY;;3-@METHYLCROTONYLGLYCINURIA I;;METHYLCROTONYLGLYCINURIA TYPE I		MCCC1
SECKEL SYNDROME 1		ATR
#210710 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I; MOPD1;;MOPD I; MOPD;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I;;BRACHYMELIC PRIMORDIAL DWARFISM;;TAYBI-LINDER SYNDROME; TALS;;CEPHALOSKELETAL DYSPLASIA;;LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA		RNU4ATAC
#210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2;;MOPD II;;OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II		PCNT
BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES,GOITER, AND PRIMARY GONADAL INSUFFICIENCY
BOWEN-CONRADI SYNDROME		EMG1
BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY
#211750 C SYNDROME;;OPITZ TRIGONOCEPHALY SYNDROME;;TRIGONOCEPHALY SYNDROME		CD96
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I
#212065 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA; CDG1A;;CDG IA; CDGIA;;JAEKEN SYNDROME;;PHOSPHOMANNOMUTASE 2 DEFICIENCY;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IA, FORMERLY		PMM2
#212066 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA; CDG2A;;CDG IIA; CDGIIA;;ALKURAYA SYNDROME;;MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPENMOUTH;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2,FORMERLY		MGAT2
212067 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIX;;CDG-X
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY		SLC25A20
CARNOSINEMIA
#212750 CELIAC DISEASE; CD;;CELIAC SPRUE;;GLUTEN-SENSITIVE ENTEROPATHY; GSECELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED; CELIAC1, INCLUDED
CEREBELLAR VERMIS APLASIA WITH ASSOCIATED FEATURES SUGGESTING SMITH-LEMLI-OPITZSYNDROME AND MECKEL SYNDROME
CEREBELLOPARENCHYMAL DISORDER II
CEREBROTENDINOUS XANTHOMATOSIS		CYP27A1
#214100 ZELLWEGER SYNDROME; ZS;;CEREBROHEPATORENAL SYNDROME;;CHR SYNDROME;;ZWS		PEX1
CEREBROHEPATORENAL SYNDROME, VARIANT TYPES		PEX5
#214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1;;COFS SYNDROME; COFS;;PENA-SHOKEIR SYNDROME, TYPE II		ERCC6
GRISCELLI SYNDROME, TYPE 1		MYO5A
CHEDIAK-HIGASHI SYNDROME		LYST
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1		PEX7
215480 CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION
#215700 CITRULLINEMIA, CLASSIC;;CITRULLINEMIA, TYPE I; CTLN1;;CITRULLINURIA;;ARGININOSUCCINATE SYNTHETASE DEFICIENCY;;ASS DEFICIENCY		ASS1
#216360 COACH SYNDROME;;CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULARCOLOBOMA, AND HEPATIC FIBROSIS;;JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS		TMEM67 ; RPGRIP1L ; CC2D2A
COCKAYNE SYNDROME, TYPE A		ERCC8
#216550 COHEN SYNDROME; COH1;;HYPOTONIA, OBESITY, AND PROMINENT INCISORS;;PEPPER SYNDROME;;CHS1, FORMERLY		VPS13B
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
%217990 CORPUS CALLOSUM, AGENESIS OF;;ACC
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY		SLC12A6
#218340 TEMTAMY SYNDROME; TEMTYS;;MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULARCOLOBOMA, OR ABNORMAL CORPUS CALLOSUM		C12ORF57
218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE;;BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS; BLSS
CRANIOSYNOSTOSIS WITH FIBULAR APLASIA
BALLER-GEROLD SYNDROME		RECQL4
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME
CRIGLER-NAJJAR SYNDROME		UGT1A1
CROME SYNDROME
#219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A;;DE BARSY SYNDROME A;;CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION;;PROGEROID SYNDROME OF DE BARSY		ALDH18A1
#219200 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A;;ARCL2;;CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION;;CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY;;CUTIS LAXA, DEBRE TYPE;;CUTIS LAXA WITH BONE DYSTROPHY;;CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT		ATP6V0A2
CUTIS MARMORATA TELANGIECTATICA CONGENITA
MITOCHONDRIAL COMPLEX IV DEFICIENCY		COX6B1 ; COX14 ; FASTKD2 ; COA5
#220111 LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC;;CYTOCHROME C OXIDASE DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, FRENCH CANADIAN TYPE;;COX DEFICIENCY, SAGUENAY-LAC-SAINT-JEAN TYPE;;LEIGH SYNDROME, SAGUENAY-LAC-SAINT-JEAN TYPE		LRPPRC
#220120 D-GLYCERIC ACIDURIA;;D-GLYCERIC ACIDEMIA;;GLYCERATE KINASE DEFICIENCY		GLYCTK
220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY
%220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATIONSYNDROME;;DOOR SYNDROME;;DIGITORENOCEREBRAL SYNDROME;;DRC SYNDROME;;BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;;ERONEN SYNDROME
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY		TREM2 ; TYROBP
#222300 WOLFRAM SYNDROME 1; WFS1;;WFS;;DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS; DIDMOAD		WFS1
DIAMINOPENTANURIA
#222448 DONNAI-BARROW SYNDROME;;FACIOOCULOACOUSTICORENAL SYNDROME;;DBS/FOAR SYNDROME;;DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM,MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA		LRP2
DIHYDROPYRIMIDINASE		DPYS
DIGITORENOCEREBRAL SYNDROME
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL		DBH
%223370 DUBOWITZ SYNDROME
#223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3;;HSAN III;;DYSAUTONOMIA, FAMILIAL; DYS; FD;;RILEY-DAY SYNDROME		IKBKAP
#224050 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1; CAMRQ1;;CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 1;;CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE;;DYSEQUILIBRIUM SYNDROME; DES		VLDLR
224250 DYSMYELINATION WITH JAUNDICE
%224300 DYSOSTEOSCLEROSIS
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME		PVRL1
#225750 AICARDI-GOUTIERES SYNDROME 1; AGS1;;AGS;;ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATIONAND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS;;CREE ENCEPHALITIS;;PSEUDOTOXOPLASMOSIS SYNDROMEAICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED		TREX1
#225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4;;ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA		TSEN54
ENDOCARDIAL FIBROELASTOSIS
#226750 KOHLSCHUTTER-TONZ SYNDROME; KTZS;;EPILEPSY AND YELLOW TEETH;;EPILEPSY, DEMENTIA, AND AMELOGENESIS IMPERFECTA;;KOHLSCHUTTER SYNDROME		ROGDI
EPILEPSY, PHOTOGENIC, WITH SPASTIC DIPLEGIA AND MENTAL RETARDATION
CELIAC DISEASE, EPILEPSY AND CEREBRAL CALCIFICATION SYNDROME
EPILEPSY-TELANGIECTASIA
#226980 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS;;MED-IDDM SYNDROME;;IDDM-MED SYNDROME;;WOLCOTT-RALLISON SYNDROME		EIF2AK3
FATTY METAMORPHOSIS OF VISCERA
#229050 FOLATE MALABSORPTION, HEREDITARY		SLC46A1
FOUNTAIN SYNDROME
FRUCTOSE AND GALACTOSE INTOLERANCE
#229600 FRUCTOSE INTOLERANCE, HEREDITARY;;FRUCTOSEMIA;;FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY;;FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY;;ALDOLASE B DEFICIENCY;;ALDOB DEFICIENCY		ALDOB
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY		FBP1
FRYNS SYNDROME
FUCOSIDOSIS		FUCA1
#230600 GM1-GANGLIOSIDOSIS, TYPE II;;GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II;;GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED		GLB1
#230900 GAUCHER DISEASE, TYPE II;;GD II;;GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE		GBA
#231000 GAUCHER DISEASE, TYPE III;;GD III;;GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE;;GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE;;GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRALGAUCHER DISEASE, TYPE IIIA, INCLUDED;;GAUCHER DISEASE, TYPE IIIB, INCLUDED;;GAUCHER DISEASE, NORRBOTTNIAN TYPE, INCLUDED		GBA
GAUCHER DISEASE, TYPE IIIC		GBA
#231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1		ADAMTSL2
3-@HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY		HADH
#231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS;;TRIPLE-A SYNDROME;;ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER;;GLUCOCORTICOID DEFICIENCY AND ACHALASIA;;ALLGROVE SYNDROME;;ADDISONIAN-ACHALASIA SYNDROME;;HYPOADRENALISM WITH ACHALASIA;;ALACRIMA-ACHALASIA-ADDISONIANISM;;ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMAACHALASIA-ALACRIMA SYNDROME, INCLUDED		AAAS
#231670 GLUTARIC ACIDEMIA I;;GLUTARIC ACIDURIA I;;GA I;;GLUTARYL-COA DEHYDROGENASE DEFICIENCY		GCDH
GLYCOGEN STORAGE DISEASE II		GAA
233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
#233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B;;HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASEI DEFICIENCY;;GTP CYCLOHYDROLASE I DEFICIENCYDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,AUTOSOMAL RECESSIVE, INCLUDED		GCH1
#234050 TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1; TTDN1;;AMISH BRITTLE HAIR BRAIN SYNDROME; ABHS;;HAIR-BRAIN SYNDROME;;BIDS SYNDROME		MPLKIP
%234100 HALLERMANN-STREIFF SYNDROME; HSS;;FRANCOIS DYSCEPHALIC SYNDROME		GJA1
#234200 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1;;PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN;;PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET;;HALLERVORDEN-SPATZ DISEASE		PANK2
234250 HALL-RIGGS MENTAL RETARDATION SYNDROME
HARTNUP DISORDER		SLC6A19
#235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1;;AHUS, SUSCEPTIBILITY TO, 1HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
#235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;;LYMPHATIC DYSPLASIA, GENERALIZED		CCBE1
#235730 MOWAT-WILSON SYNDROME;;MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITHOR WITHOUT HIRSCHSPRUNG DISEASE;;HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME		ZEB2
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
HOLOPROSENCEPHALY		HPE1
#236200 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;;HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;;CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;;CBS DEFICIENCYHYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED		CBS
#236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATEREDUCTASE ACTIVITY;;METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY;;MTHFR DEFICIENCYMTHFR DEFICIENCY, THERMOLABILE TYPE, INCLUDED		MTHFR
#236670 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1; MDDGA1;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED;;HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA;;HARD SYNDROME;;CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME;;COD-MD SYNDROME		POMT1
#236792 L-2-HYDROXYGLUTARIC ACIDURIA;;L-2-HYDROXYGLUTARIC ACIDEMIA		L2HGDH
%236795 3-@HYDROXYISOBUTYRIC ACIDURIA
HYDROXYLYSINURIA
#237300 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO;;CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY;;CPS I DEFICIENCY		CPS1
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY		NAGS
HYPER-BETA-ALANINEMIA
HYPERLEUCINE-ISOLEUCINEMIA
HYPERLYSINEMIA		AASS
#238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME;;HHH SYNDROME; HHHS; HHH;;ORNITHINE TRANSLOCASE DEFICIENCY		SLC25A15
#239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1;;MABRY SYNDROME		PIGV
HYPERPHOSPHATEMIA, POLYURIA, AND SEIZURES
#239500 HYPERPROLINEMIA, TYPE I; HPI;;PROLINE OXIDASE DEFICIENCY		PRODH
HYPERPROLINEMIA, TYPE II		ALDH4A1
HYPOADRENOCORTICISM, FAMILIAL
GLYCOGEN STORAGE DISEASE 0, LIVER		GYS2
#240900 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY; HIHGHH		AKT2
BARTTER SYNDROME, ANTENATAL, TYPE 2		KCNJ1
#241410 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD;;HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES;;SANJAD-SAKATI SYNDROME;;HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTHRETARDATION, AND DEVELOPMENTAL DELAY		TBCE
HYPOPHOSPHATASIA, INFANTILE		ALPL
HYPOPHOSPHATASIA, CHILDHOOD		ALPL
#242840 VICI SYNDROME; VICIS;;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION,AND ABSENT CORPUS CALLOSUM		EPG5
#243310 BARAITSER-WINTER SYNDROME 1; BRWS1;;IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND MENTAL RETARDATION		ACTB
#243500 ISOVALERIC ACIDEMIA; IVA;;ISOVALERIC ACID COA DEHYDROGENASE DEFICIENCY;;IVD DEFICIENCY		IVD
%244300 KAPUR-TORIELLO SYNDROME;;LONG COLUMELLA WITH CLEFT LIP/PALATE AND EYE, HEART, AND INTESTINALANOMALIES
#244460 KENNY-CAFFEY SYNDROME, TYPE 1; KCS1;;KCS;;KENNY-CAFFEY SYNDROME, AUTOSOMAL RECESSIVE		TBCE
#245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES		MGP
KIFAFA SEIZURE DISORDER
#245200 KRABBE DISEASE;;GLOBOID CELL LEUKODYSTROPHY; GLD; GCL;;GLOBOID CELL LEUKOENCEPHALOPATHY;;GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY;;GALACTOCEREBROSIDASE DEFICIENCY;;GALC DEFICIENCY		GALC
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY		PDHX
#245400 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITHMETHYLMALONIC ACIDURIA); MTDPS9;;LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY		SUCLG1
LANDAU-KLEFFNER SYNDROME
#246900 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD;;DLD DEFICIENCY;;E3 DEFICIENCY;;LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO;;MAPLE SYRUP URINE DISEASE, TYPE III		DLD
#247100 LIPOID PROTEINOSIS OF URBACH AND WIETHE;;LIPOID PROTEINOSIS;;URBACH-WIETHE DISEASE;;HYALINOSIS CUTIS ET MUCOSAE		ECM1
#247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS;;MDSCHROMOSOME 17P13.3 DELETION SYNDROME, INCLUDED;;MILLER-DIEKER SYNDROME CHROMOSOME REGION, INCLUDED; MDCR, INCLUDED
MACDERMOT-WINTER SYNDROME
HYPOMAGNESEMIA 3, RENAL		CLDN16
#248360 MALONYL-COA DECARBOXYLASE DEFICIENCY		MLYCD
MANNOSIDOSIS, BETA A, LYSOSOMAL		MANBA
MAPLE SYRUP URINE DISEASE		BCKDHA ; BCKDHB ; DBT
%248700 MARDEN-WALKER SYNDROME;;MWS
248910 CUTANEOUS MASTOCYTOSIS, CONDUCTIVE HEARING LOSS AND MICROTIA
MEGALENCEPHALY WITH DYSMYELINATION
#249270 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA;;THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA,DIABETES MELLITUS, AND DEAFNESS TYPE); THMD1;;MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUSAND SENSORINEURAL DEAFNESS;;ROGERS SYNDROME;;THIAMINE-RESPONSIVE ANEMIA SYNDROME;;THIAMINE-RESPONSIVE MYELODYSPLASIA		SLC19A2
%249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME;;MMR SYNDROME;;NEUHAUSER SYNDROME
249400 MELANOSIS, NEUROCUTANEOUS
MENTAL RETARDATION SYNDROME, BELGIAN TYPE
MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS,AND HYPOPLASTIC TEETH
MERCAPTOLACTATE-CYSTEINE DISULFIDURIA
#249900 METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY;;METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATORDEFICIENCY;;SAPOSIN B DEFICIENCY		PSAP
#250100 METACHROMATIC LEUKODYSTROPHY;;MLD;;METACHROMATIC LEUKOENCEPHALOPATHY;;CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM;;SULFATIDE LIPIDOSIS;;ARYLSULFATASE A DEFICIENCY;;ARSA DEFICIENCY;;CEREBROSIDE SULFATASE DEFICIENCYPSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED;;METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED		ARSA
%250900 METHIONINE MALABSORPTION SYNDROME;;SMITH-STRANG DISEASE;;OASTHOUSE URINE DISEASE
3-@METHYLGLUTACONIC ACIDURIA, TYPE I		AUH
250951 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV; MGCA4;;MGA, TYPE IV; MGA4
#251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY;;METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCYMMA DUE TO MCM DEFICIENCY;;METHYLMALONIC ACIDURIA, MUT TYPEMETHYLMALONIC ACIDURIA, MUT(0) TYPE, INCLUDED;;METHYLMALONIC ACIDURIA, MUT(-) TYPE, INCLUDED		MUT
#251100 METHYLMALONIC ACIDURIA, CBLA TYPE;;METHYLMALONIC ACIDEMIA, CBLA TYPE;;METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESISOF ADENOSYLCOBALAMIN, CBLA TYPE		MMAA
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1		MCPH1
MICROCEPHALY-CARDIOMYOPATHY
MICROCEPHALY WITH CHORIORETINOPATHY, AUTOSOMAL RECESSIVECHORIORETINAL DYSPLASIA-MICROCEPHALY-MENTAL RETARDATION SYNDROME,INCLUDED		TUBGCP6
251280 MICROCEPHALY WITH SPASTIC QUADRIPLEGIA
#251290 BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA;BLCPMG;;PSEUDO-TORCH SYNDROME		OCLN
MICROCEPHALY, HIATUS HERNIA, AND NEPHROTIC SYNDROME
#251880 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE); MTDPS3		DGUOK
251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
#252010 MITOCHONDRIAL COMPLEX I DEFICIENCY;;NADH:Q(1) OXIDOREDUCTASE DEFICIENCY;;NADH-COENZYME Q REDUCTASE DEFICIENCY;;MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCYOF		NDUFAF3 ; NDUFAF1 ; NDUFB3 ; NDUFA11 ; NDUFAF4 ; NDUFS1 ; NDUFAF2 ; NDUFS3 ; NDUFV1 ; NDUFS2 ; NDUFAF5 ; NDUFS6 ; NDUFA1 ; NDUFS4 ; NUBPL ; FOXRED1 ; NDUFV2
MITOCHONDRIAL COMPLEX II DEFICIENCY		SDHA ; SDHAF1
%252100 MOHR SYNDROME;;OROFACIODIGITAL SYNDROME II; OFD2;;OFDS II;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE II
MOLYBDENUM COFACTOR DEFICIENCY		GPHN ; MOCS2 ; MOCS1
MONOSOMY 7 OF BONE MARROW
MUCOPOLYSACCHARIDOSIS TYPE IIIA		SGSH
MUCOPOLYSACCHARIDOSIS TYPE IIIB		NAGLU
#252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC;;MPS IIIC; MPS3C;;SANFILIPPO SYNDROME C;;ACETYL-COA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY		HGSNAT
#252940 MUCOPOLYSACCHARIDOSIS TYPE IIID;;MPS IIID;;SANFILIPPO SYNDROME D;;N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY		GNS
BIOTINIDASE DEFICIENCYMULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET		BTD
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY		HLCS
#253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3; MDDGA3;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		POMGNT1
MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY
#253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4; MDDGA4;;FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED		FKTN
#254770 EPILEPSY, MYOCLONIC JUVENILE; EJM;;MYOCLONIC EPILEPSY, JUVENILE; JME;;PETIT MAL, IMPULSIVE;;JANZ SYNDROMEMYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1, INCLUDED; EJM1,INCLUDED
#254780 MYOCLONIC EPILEPSY OF LAFORA;;MELF;;LAFORA DISEASE;;LAFORA BODY DISEASE; LBD;;EPILEPSY, PROGRESSIVE MYOCLONIC 2A; EPM2A;;EPM2EPILEPSY, PROGRESSIVE MYOCLONIC 2B, INCLUDED; EPM2B, INCLUDED		EPM2A ; NHLRC1
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG		CSTB
#254900 EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE;EPM4;;ACTION MYOCLONUS-RENAL FAILURE SYNDROME; AMRF;;MYOCLONUS-NEPHROPATHY SYNDROME		SCARB2
#255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY;;CARNITINE PALMITOYLTRANSFERASE IA DEFICIENCY;;CPT I DEFICIENCY;;CPT DEFICIENCY, HEPATIC, TYPE I		CPT1A
#256000 LEIGH SYNDROME; LS;;NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH; SNELEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, INCLUDED;;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX V DEFICIENCY, INCLUDED		NDUFS7 ; NDUFA10 ; NDUFA9 ; SDHA ; BCS1L ; NDUFAF2 ; SURF1 ; NDUFA12 ; NDUFS3 ; COX15 ; NDUFS4 ; NDUFA2 ; NDUFS8 ; FOXRED1 ; NDUFAF6
#256040 AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD;;NAKAJO-NISHIMURA SYNDROME; NKJO;;JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCEDLIPODYSTROPHY; JMP SYNDROME;;CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATEDTEMPERATURE SYNDROME; CANDLE		PSMB8
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1		ABCC8
#256500 NETHERTON SYNDROME; NETH;;NS;;NETHERTON DISEASE		SPINK5
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY		CTSA
NEURAMINIDASE DEFICIENCY		NEU1
#256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A;;NEUROAXONAL DYSTROPHY, INFANTILE; INAD1;;INAD;;NEURODEGENERATION, PLA2G6-ASSOCIATED; PLAN;;SEITELBERGER DISEASE		PLA2G6
ELEJALDE DISEASE
CEROID LIPOFUSCINOSIS, NEURONAL, 1		PPT1
CEROID LIPOFUSCINOSIS, NEURONAL, 5		CLN5
NIEMANN-PICK DISEASE, TYPE C1		NPC1
#257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1;;MVA SYNDROME		BUB1B
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS
OLIVER SYNDROME
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND
FAMILIAL OSTEODYSPLASIA, ANDERSON TYPE
#259700 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1;;OSTEOPETROSIS, INFANTILE MALIGNANT 1;;MARBLE BONES, AUTOSOMAL RECESSIVE;;ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE		TCIRG1
PAPILLOMA OF CHOROID PLEXUS		TP53
PEHO SYNDROME
#260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3		AIMP1
HYPER-IGD SYNDROME		MVK
#261515 D-BIFUNCTIONAL PROTEIN DEFICIENCY;;17-@BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY;;DBP DEFICIENCY;;PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY;;PBFE DEFICIENCY		HSD17B4
#261540 PETERS-PLUS SYNDROME;;KRAUSE-KIVLIN SYNDROME;;PETERS ANOMALY WITH SHORT-LIMB DWARFISM		B3GALTL
#261600 PHENYLKETONURIA; PKU;;PHENYLALANINE HYDROXYLASE DEFICIENCY;;PAH DEFICIENCY;;OLIGOPHRENIA PHENYLPYRUVICA;;FOLLING DISEASEHYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED;;HPA, NON-PKU MILD, INCLUDED;;PHENYLKETONURIA, MATERNAL, INCLUDED		PAH
PHENYLKETONURIA II		QDPR
6-@PYRUVOYLTETRAHYDROPTERIN SYNTHASE		PTS
261680 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, CYTOSOLIC;;PCK1 DEFICIENCY, CYTOSOLIC;;PEPCK DEFICIENCY, CYTOSOLIC		PCK1
#262600 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2;;PANHYPOPITUITARISM;;ATELIOTIC DWARFISM WITH HYPOGONADISM;;PITUITARY DWARFISM III;;HANHART DWARFISM		PROP1
#263800 GITELMAN SYNDROME;;HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA;;POTASSIUM AND MAGNESIUM DEPLETION		SLC12A3
#264470 PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY;;STRAIGHT-CHAIN ACYL-COA OXIDASE DEFICIENCY;;PSEUDONEONATAL ADRENOLEUKODYSTROPHY		ACOX1
PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HANDANOMALIES
#264700 VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A; VDDR1A;;VITAMIN D-DEPENDENT RICKETS, TYPE 1A;;1@-ALPHA, 25-HYDROXYVITAMIN D3 DEFICIENCY, SELECTIVE;;25-@HYDROXYCHOLECALCIFEROL-1-HYDROXYLASE DEFICIENCY;;1-@ALPHA-HYDROXYLASE DEFICIENCY;;VITAMIN D DEPENDENCY, TYPE 1; VDD1;;PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; PDDR1A;;PDDR IA		CYP27B1
#266100 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD;;PYRIDOXINE-DEPENDENT EPILEPSY; PDE;;PYRIDOXINE DEPENDENCY WITH SEIZURES;;AASA DEHYDROGENASE DEFICIENCY		ALDH7A1
#266130 GLUTATHIONE SYNTHETASE DEFICIENCY;;5-@OXOPROLINURIA;;PYROGLUTAMIC ACIDURIA		GSS
PYRUVATE CARBOXYLASE DEFICIENCY		PC
#266265 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C;;CDG IIC; CDGIIC;;LEUKOCYTE ADHESION DEFICIENCY, TYPE II; LAD2;;RAMBAM-HASHARON SYNDROME; RHS		SLC35C1
RAMON SYNDROME
#267000 PERLMAN SYNDROME; PRLMNS;;RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;;NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR		DIS3L2
%267700 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1;;HPLH1;;HLH1;;HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FHL; FHLH; HPLH;;RETICULOSIS, FAMILIAL HISTIOCYTIC;;HEMOPHAGOCYTIC RETICULOSIS, FAMILIAL;;ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL; FEL		HPLH1
RETINAL DEGENERATION AND EPILEPSY
KNOBLOCH SYNDROME, TYPE I		COL18A1
SANDHOFF DISEASE		HEXB
SC PHOCOMELIA SYNDROME		ESCO2
#269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME;;SGS		SETBP1
SCHIZENCEPHALY		SHH ; EMX2 ; SIX3
%269200 AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II; APS2;;SCHMIDT SYNDROME;;DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMA;;POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE II;;PGA II;;POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE II;;APS II
EPILEPSY, BENIGN NEONATAL, AUTOSOMAL RECESSIVE
INFANTILE SIALIC ACID STORAGE DISORDER		SLC17A5
#269921 SIALURIA;;SIALURIA, FRENCH TYPE		GNE
SJOGREN-LARSSON SYNDROME		ALDH3A2
#270400 SMITH-LEMLI-OPITZ SYNDROME; SLOS;;SLO SYNDROME;;RSH SYNDROME;;RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME;;POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG;;LETHAL ACRODYSGENITAL SYNDROME		DHCR7
INFANTILE-ONSET SPINOCEREBELLAR ATAXIA		C10ORF2
#271900 CANAVAN DISEASE;;CANAVAN-VAN BOGAERT-BERTRAND DISEASE;;SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM;;ASPARTOACYLASE DEFICIENCY;;ASPA DEFICIENCY;;ASP DEFICIENCY;;AMINOACYLASE 2 DEFICIENCY;;ACY2 DEFICIENCY		ASPA
#271980 SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD;;SSADH DEFICIENCY;;4-@HYDROXYBUTYRIC ACIDURIA;;GABA METABOLIC DEFECT;;GAMMA-HYDROXYBUTYRIC ACIDURIA		ALDH5A1
#272200 MULTIPLE SULFATASE DEFICIENCY; MSD;;MUCOSULFATIDOSIS;;SULFATIDOSIS, JUVENILE, AUSTIN TYPE		SUMF1
#272300 SULFOCYSTEINURIA;;SULFITE OXIDASE DEFICIENCY		SUOX
#272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1;;CRISPONI SYNDROME;;SOHAR-CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH		CRLF1
%272440 SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION;;FILIPPI SYNDROME
TACHYCARDIA, HYPERTENSION, MICROPHTHALMIA, AND HYPERGLYCINURIA
TAY-SACHS DISEASE, AB VARIANT		GM2A
TAY-SACHS DISEASE		HEXA
INFANTILE SYMMETRICAL THALAMIC DEGENERATION
THORACIC DYSPLASIA-HYDROCEPHALUS SYNDROME
THREONINEMIA
#274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR;;TAR SYNDROME;;CHROMOSOME 1Q21.1 DELETION SYNDROME, 200-KB		RBM8A
THYROCEREBRORETINAL SYNDROME
#274270 DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY;;DPD DEFICIENCY;;DPYD DEFICIENCY;;THYMINE-URACILURIA, HEREDITARY;;PYRIMIDINEMIA, FAMILIAL5-@FLUOROURACIL TOXICITY, INCLUDED		DPYD
#276300 MISMATCH REPAIR CANCER SYNDROME;;MMRCS;;MISMATCH REPAIR DEFICIENCY;;MMR DEFICIENCY;;CHILDHOOD CANCER SYNDROME;;BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTPS1;;BTP1 SYNDROME;;TURCOT SYNDROME		MSH2 ; MSH6 ; MLH1 ; PMS2
TYROSINE TRANSAMINASE DEFICIENCY		TAT
TYROSINEMIA, TYPE III		HPD
#277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLC TYPE;;METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, VITAMIN B12-RESPONSIVE;;VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-COAMUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE		MMACHC
#277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE;;METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CBLD TYPEHOMOCYSTINURIA, CBLD TYPE, VARIANT 1, INCLUDED;;METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, INCLUDED;;METHYLMALONIC ACIDURIA, CBLH TYPE, FORMERLY;;METHYLMALONIC ACIDEMIA, CBLH TYPE, FORMERLY		MMADHC
#277440 VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A;;VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA;;RICKETS, HEREDITARY VITAMIN D-RESISTANT; HVDRR;;GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D;;VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL;;PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA;;PDDR IIA;;HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS; HVDRR;;RICKETS-ALOPECIA SYNDROME		VDR
#277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A;;PCH2;;PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY;;VOLENDAM NEURODEGENERATIVE DISEASE		TSEN54
#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED		EZH2
INTELLECTUAL DEFICIT, WOLFF TYPE
#278250 WRINKLY SKIN SYNDROME; WSS		ATP6V0A2
XYLOSIDASE DEFICIENCY
#280000 COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTALRETARDATION, AND EAR ANOMALIES SYNDROME; CHIME;;CHIME SYNDROME;;ZUNICH NEUROECTODERMAL SYNDROME		PIGL
#300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA;;ACC WITH ABNORMAL GENITALIA;;PROUD SYNDROME		ARX
#300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED;;IPOX;;CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; CIIP;;CIIP, X-LINKED; CIIPX;;INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRALNERVOUS SYSTEM INVOLVEMENTCONGENITAL SHORT BOWEL SYNDROME, INCLUDED; CSBS, INCLUDED		FLNA
#300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT;;HETEROTOPIA, FAMILIAL NODULAR;;PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1;;NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR; NHBP; BPNHHETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA,INCLUDED		FLNA
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13		MECP2
MENTAL RETARDATION, X-LINKED 14		MRX14
#300067 LISSENCEPHALY, X-LINKED, 1; LISX1;;XLIS;;LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUMSUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED; SCLH, INCLUDED;;SUBCORTICAL BAND HETEROTOPIA, X-LINKED, INCLUDED; SBH, INCLUDED;;DOUBLE CORTEX SYNDROME, INCLUDED;;DC SYNDROME, INCLUDED		DCX
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION		PCDH19
#300143 MENTAL RETARDATION, X-LINKED 21; MRX21;;MENTAL RETARDATION, X-LINKED 34; MRX34		IL1RAPL1
MEHMO SYNDROME		MEHMO
#300215 LISSENCEPHALY, X-LINKED, 2; LISX2;;LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG;;XLISGHYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED		ARX
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11		MRXS11
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE		SLC9A6
LUBS X-LINKED MENTAL RETARDATION SYNDROME		MECP2
%300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
300270 ADRENOMYODYSTROPHY
MENTAL RETARDATION, X-LINKED 72		RAB39B ; MRX72
HYPOMELANOSIS OF ITO		HMI
#300352 CREATINE DEFICIENCY SYNDROME, X-LINKED;;CREATINE TRANSPORTER DEFECT;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACEHYPOPLASIA;;MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY		SLC6A8
#300354 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, ANDABNORMAL GAIT;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 15; MRXS15;;CABEZAS X-LINKED MENTAL RETARDATION SYNDROME; MRXSC;;CABEZAS SYNDROME		CUL4B
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS		AMER1
POLYMICROGYRIA, BILATERAL PERISYLVIAN
INTELLECTUAL DEFICIT, X-LINKED, WITTWER TYPE
#300422 FG SYNDROME 4; FGS4MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS, INCLUDED		CASK
#300423 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH;;MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; MRXE		ATP6AP2
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1AUTSX1
ATKIN-FLAITZ SYNDROME
#300438 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY;;HSD17B10 DEFICIENCY;;HSD10 DEFICIENCY;;3-@HYDROXYACYL-COA DEHYDROGENASE II DEFICIENCY;;2-@METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY;;MHBD DEFICIENCY		HSD17B10
CUBITUS VALGUS WITH MENTAL RETARDATION AND UNUSUAL FACIES
#300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVEFACIAL APPEARANCE;;MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY		OPHN1
#300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIORDISORDERS		SYN1
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2		NLGN4X
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED		KDM5C
EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA		FLNA
NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS		AVPR2
#300558 MENTAL RETARDATION, X-LINKED 30; MRX30;;MENTAL RETARDATION, X-LINKED 47; MRX47		PAK3
CLARK-BARAITSER SYNDROME
#300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8;;HYPEREKPLEXIA AND EPILEPSY		ARHGEF9
%300612 BROOKS-WISNIEWSKI-BROWN SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE;MRXSBWB
FRAGILE X MENTAL RETARDATION SYNDROME		FMR1
#300643 ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED;RESDX		SRPX2
#300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY;;PGK1 DEFICIENCY		PGK1
#300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2;;INFANTILE SPASM SYNDROME, X-LINKED 2; ISSX2;;RETT SYNDROME, VARIANT, WITH INFANTILE SPASMS;;RETT SYNDROME, ATYPICAL, CDKL5-RELATED		CDKL5
#300673 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS		MECP2
#300699 MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE; MRXSW;;MENTAL RETARDATION, X-LINKED 94; MRX94;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 29; MRXS29		GRIA3
SYNDACTYLY - TELECANTHUS - ANOGENITAL AND RENAL MALFORMATIONS		FAM58A
#300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA;MICPCH;;MICPCH SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; MRXSNA		CASK
#300801 CHROMOSOME XP11.23-P11.22 DUPLICATION SYNDROME
#300802 MENTAL RETARDATION, X-LINKED 96; MRX96		SYP
#300816 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6;;ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED		AIFM1
#300831 CK SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICALMALFORMATION		NSDHL
#300842 MCLEOD SYNDROME; MCLDS;;MCLEOD PHENOTYPE;;NEUROACANTHOCYTOSIS, MCLEOD TYPEMCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE, INCLUDED		XK
#300845 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL DYSMORPHISM; MYMY4;;CHROMOSOME XQ28 DELETION SYNDROME, 3.4-KB;;SYNDROMIC MOYAMOYA DISEASE
#300848 MENTAL RETARDATION, X-LINKED 89; MRX89		ZNF41
#300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 30; MRXS30		UBE2A
%300861 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE; MRXSCS;;MENTAL RETARDATION, X-LINKED, WITH SEIZURES, HYPOGAMMAGLOBULINEMIA,AND GAIT DISTURBANCE
300864 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
#300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2		PIGA
#300872 EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY; TMLHED;;AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6		TMLHE
#300882 CORNELIA DE LANGE SYNDROME 5; CDLS5		HDAC8
#300886 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		CLIC2
#300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5;;BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN;;STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD;SENDA		WDR45
#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;;ATR-X SYNDROME;;ATR, NONDELETION TYPE		ATRX
%301220 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS; PDR;;AMYLOIDOSIS, FAMILIAL CUTANEOUS		PDR
FABRY DISEASE		GLA
301790 SPINOCEREBELLAR ATAXIA, X-LINKED 3;;SCAX3;;ATAXIA-DEAFNESS SYNDROME, X-LINKED		SCAX3
#301830 SPINAL MUSCULAR ATROPHY, X-LINKED 2; SMAX2;;SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE;;SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED; XLSMA;;ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED;;AMC, DISTAL, X-LINKED;;ARTHROGRYPOSIS, X-LINKED, TYPE I; AMCX1		UBA1
#301835 ARTS SYNDROME; ARTS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; MRXSARTS;;ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MRXS18		PRPS1
BORJESON-FORSSMAN-LEHMANN SYNDROME		PHF6
%302380 CATEL-MANZKE SYNDROME;;HYPERPHALANGY-CLINODACTYLY OF INDEX FINGER WITH PIERRE ROBIN SYNDROME;;PIERRE ROBIN SYNDROME WITH HYPERPHALANGY AND CLINODACTYLY;;INDEX FINGER ANOMALY WITH PIERRE ROBIN SYNDROME;;PALATODIGITAL SYNDROME, CATEL-MANZKE TYPE;;MICROGNATHIA DIGITAL SYNDROME
#303600 COFFIN-LOWRY SYNDROME; CLS		RPS6KA3
%304050 AICARDI SYNDROME; AIC;;CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITY		AIC
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED		L1CAM
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED		AVPR2
#305450 OPITZ-KAVEGGIA SYNDROME; OKS;;FG SYNDROME 1; FGS1;;FG SYNDROME; FGS;;MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA,AND PARTIAL AGENESIS OF CORPUS CALLOSUM;;KELLER SYNDROME		MED12
306960 HHHH SYNDROME;;HEREDITARY HEMIHYPOTROPHY HEMIPARESIS HEMIATHETOSIS SYNDROME
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS		L1CAM
#307030 HYPERGLYCEROLEMIA;;GLYCEROL KINASE DEFICIENCY;;GK DEFICIENCY; GKD;;GK1 DEFICIENCY		GK
HYPOPARATHYROIDISM, X-LINKED		HPT
ICHTHYOSIS, X-LINKED		STS
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED
#308205 IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME;;ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUTBRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS,HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM,AND KIDNEY DYSPLASIA/HYPOPLASIA		MBTPS2
#308300 INCONTINENTIA PIGMENTI; IP;;INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE;;BLOCH-SULZBERGER SYNDROME;;INCONTINENTIA PIGMENTI, TYPE II, FORMERLY; IP2, FORMERLY		IKBKG
#308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1;;INFANTILE SPASM SYNDROME, X-LINKED 1; ISSX1;;WEST SYNDROME, X-LINKED;;OHTAHARA SYNDROME, X-LINKED;;INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY;;XMESID		ARX
#309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL;;OCRL1;;LOWE SYNDROME;;PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY		OCRL
MENKES DISEASE		ATP7A
MENTAL RETARDATION ASSOCIATED WITH PSORIASIS
#309500 RENPENNING SYNDROME 1; RENS1;;MENTAL RETARDATION, X-LINKED, RENPENNING TYPE;;SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS;;GOLABI-ITO-HALL SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8;;MENTAL RETARDATION, X-LINKED 55; MRX55		PQBP1
#309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS;;PARTINGTON SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 1; MRXS1;;MENTAL RETARDATION, X-LINKED, WITH DYSTONIC MOVEMENTS, ATAXIA, ANDSEIZURES;;MENTAL RETARDATION, X-LINKED 36; MRX36		ARX
#309520 LUJAN-FRYNS SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS		MED12
%309545 MENTAL RETARDATION, X-LINKED, SYNDROMIC 12; MRXS12
#309549 MENTAL RETARDATION, X-LINKED 9; MRX9;;MENTAL RETARDATION, X-LINKED 44; MRX44		FTSJ1
MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1		ATRX
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE		SMS
#309585 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS;;MENTAL RETARDATION, X-LINKED, SYNDROMIC 6; MRXS6;;MENTAL RETARDATION, X-LINKED, WITH GYNECOMASTIA AND OBESITY		HDAC8 ; WTS
PRIETO X-LINKED MENTAL RETARDATION SYNDROME		PRS
MICROPHTHALMIA, SYNDROMIC 7		HCCS
#309900 MUCOPOLYSACCHARIDOSIS TYPE II;;MPS II; MPS2;;HUNTER SYNDROME;;IDURONATE 2-SULFATASE DEFICIENCY;;IDS DEFICIENCY;;SULFOIDURONATE SULFATASE DEFICIENCY;;SIDS DEFICIENCY		IDS
310370 MYOCLONIC EPILEPSY, PROGRESSIVE
NORRIE DISEASE		NDP
#311200 OROFACIODIGITAL SYNDROME I; OFD1;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;;OFDS I;;PAPILLON-LEAGE AND PSAUME SYNDROME		OFD1
#311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO;;ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY;;OTC DEFICIENCYVALPROATE SENSITIVITY, INCLUDED		OTC
PAINE SYNDROME		MSD
311450 PALLISTER W SYNDROME;;W SYNDROME
PARKINSONISM, EARLY-ONSET, WITH MENTAL RETARDATION		WSN
#312080 PELIZAEUS-MERZBACHER DISEASE; PMD;;LEUKODYSTROPHY, HYPOMYELINATING, 1; HLD1		PLP1
#312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD;;PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;;PYRUVATE DECARBOXYLASE DEFICIENCY;;ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM;;PDH DEFICIENCY;;ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY;;ATAXIA WITH LACTIC ACIDOSIS ILACTIC ACIDEMIA, THIAMINE-RESPONSIVE, INCLUDED		PDHA1
RETT SYNDROME		MECP2
312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1		GPC3
TRIGONOCEPHALY WITH SHORT STATURE AND DEVELOPMENTAL DELAY
CYCLIC VOMITING SYNDROME
#520000 DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD;;DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED;;BALLINGER-WALLACE SYNDROME;;DIABETES MELLITUS, TYPE II, WITH DEAFNESS;;NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS;;NIDDM WITH DEAFNESS
KEARNS-SAYRE SYNDROME
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKEEPISODES
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
WOLFRAM SYNDROME, MITOCHONDRIAL FORM
#600001 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS; PACHD;;PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITALHEART DISEASE		GATA6
600096 PUERTO RICAN INFANT HYPOTONIA SYNDROME
EPILEPSY, CHILDHOOD ABSENCE, 1		ECA1
CEROID LIPOFUSCINOSIS, NEURONAL, 8		CLN8
%600176 PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS;;PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
LOWRY-MACLEAN SYNDROME
FRYNS MACROCEPHALY
BAND HETEROTOPIA OF BRAIN
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT		NIPA1
#600376 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED,INCLUDED		ACVRL1
#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2Q37 DELETION SYNDROME, INCLUDED		HDAC4 ; BDMR
600460 CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY;;CCGE;;ACROCARDIOFACIAL SYNDROME; ACFS
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT		LGI1
#600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1		CHRNA4
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE		CPT2
EPILEPSY, IDIOPATHIC GENERALIZED		EGI
600679 DERMOID CYSTS, FAMILIAL FRONTONASAL
#600721 D-2-@HYDROXYGLUTARIC ACIDURIA 1;;D2HGA;;D2HGA1		D2HGDH
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1		FCMTE1
ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, AUTOSOMALDOMINANT
HARROD SYNDROME
#601110 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID; CDG1D;;CDG ID; CDGID;;CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV, FORMERLY; CDGS4,FORMERLY;;CDGS, TYPE IV, FORMERLY		ALG3
GURRIERI SYNDROME
ALOPECIA-MENTAL RETARDATION SYNDROME WITH CONVULSIONS AND HYPERGONADOTROPICHYPOGONADISM
POTOCKI-SHAFFER SYNDROME
MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND COARSE FACE
BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION
#601358 NICOLAIDES-BARAITSER SYNDROME; NCBRS;;SPARSE HAIR AND MENTAL RETARDATION;;NBS		SMARCA2
#601378 CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE
#601539 PEROXISOME BIOGENESIS DISORDER 1B; PBD1B;;PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILEREFSUM DISEASE);;PEROXISOME BIOGENESIS DISORDER (NALD/IRD);;ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL;;REFSUM DISEASE, INFANTILE;;INFANTILE PHYTANIC ACID STORAGE DISEASE		PEX1
%601612 LUNG AGENESIS, CONGENITAL HEART DEFECTS, AND THUMB ANOMALIES SYNDROME;LACHT;;MARDINI-NYHAN ASSOCIATION
#601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE; TTDPICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTHRETARDATION, INCLUDED;;TAY SYNDROME, INCLUDED;;TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED;;ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED;;IBIDS SYNDROME, INCLUDED		GTF2H5 ; ERCC2 ; ERCC3
BARTTER SYNDROME, ANTENATAL, TYPE 1		SLC12A1
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 6		CLN6
#601803 PALLISTER-KILLIAN SYNDROME; PKS;;TETRASOMY 12P, MOSAIC;;ISOCHROMOSOME 12P SYNDROMEHEXASOMY 12P, MOSAIC, INCLUDED
#601808 CHROMOSOME 18Q DELETION SYNDROME;;CHROMOSOME 18Q- SYNDROME;;18Q- SYNDROME
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY		PHGDH
601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA;;GOMEZ-LOPEZ-HERNANDEZ SYNDROME;;GLH SYNDROME;;CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA		TRPM6
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS		ICCA ; PRRT2
%602248 MALIGNANT ATROPHIC PAPULOSIS;;DEGOS DISEASE;;PAPULOSIS, MALIGNANT ATROPHIC
%602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY;;PIERPONT SYNDROME
#602398 DESMOSTEROLOSIS		DHCR24
#602473 ENCEPHALOPATHY, ETHYLMALONIC; EE		ETHE1
%602477 FEBRILE SEIZURES, FAMILIAL, 2; FEB2;;CONVULSIONS, FAMILIAL FEBRILE, 2		FEB2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2		ATP1A2
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3		GCK
#602501 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP;;MACROCEPHALY-CAPILLARY MALFORMATION; MCM;;MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME;;MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC;;MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA		PIK3CA
#602541 MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC;;MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES		CHKB
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC		ALG6
%603204 EPILEPSY, NOCTURNAL FRONTAL LOBE, 2; ENFL2
CEREBRAL CAVERNOUS MALFORMATIONS 2		CCM2
#603285 CEREBRAL CAVERNOUS MALFORMATIONS 3; CCM3		PDCD10
#603387 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME;MPPH;;MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME;;MEG-PMG-MEGACC SYNDROME;;MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT		PIK3R2 ; PIK3CA ; AKT3
NEURONAL INTRANUCLEAR INCLUSION DISEASE
CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE		GAD1
#603516 SPINOCEREBELLAR ATAXIA 10; SCA10		ATXN10
#603553 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2;;HPLH2;;HLH2		PRF1
BLEPHAROPHIMOSIS-INTELLECTUAL DEFICIT SYNDROME, SBBYS TYPE		KAT6B
#603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM;;CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION; CACH;;VANISHING WHITE MATTER LEUKODYSTROPHY;;CREE LEUKOENCEPHALOPATHY; CLEVANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED;;OVARIOLEUKODYSTROPHY, INCLUDED		EIF2B2 ; EIF2B5 ; EIF2B4 ; EIF2B3 ; EIF2B1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS		MLC1
#604213 CHUDLEY-MCCULLOUGH SYNDROME; CMCS;;DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUMAND ARACHNOID CYSTS;;DEAFNESS, AUTOSOMAL RECESSIVE 82; DFNB82		GPSM2
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB		SERPINI1
#604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1;;GEFS+, TYPE 1; GEFS+1		SCN1B
ATPASE DEFICIENCY, NUCLEAR-ENCODED		ATPAF2
#604317 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS; MCPH2		WDR62
FEBRILE CONVULSIONS, FAMILIAL, 4		GPR98
#604360 SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT ANDTHIN CORPUS CALLOSUM;;SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUSCALLOSUM;;HSP-TCC		SPG11
#604369 SIALURIA, FINNISH TYPE;;SALLA DISEASE; SD		SLC17A5
#604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2;;GEFS+, TYPE 2; GEFS+2FEBRILE SEIZURES, FAMILIAL, 3A, INCLUDED; FEB3A, INCLUDED		SCN1A
CRANIOSYNOSTOSIS, BOSTON TYPE		MSX2
#604772 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH ORWITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP		RYR2
HUNTINGTON DISEASE-LIKE 3
MYOCLONIC EPILEPSY, JUVENILE, 2		EJM2
%605013 MICROHYDRANENCEPHALY; MHAC;;HYDRANENCEPHALY AND MICROCEPHALY		MHAC
#605021 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME;;EIM		TBC1D24
#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME		ASXL1
ALZHEIMER DISEASE, FAMILIAL EARLY-ONSET, WITH COEXISTING AMYLOID ANDPRION PATHOLOGY
#605130 HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTALDELAY;;WIEDEMANN-STEINER SYNDROME; WDSTS		KMT2A
#605714 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED;;AMYLOIDOSIS, CEREBROARTERIAL, APP-RELATED;;AMYLOIDOSIS, HEREDITARY, WITH CEREBRAL HEMORRHAGE, DUTCH VARIANT;HCHWAD;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT;;CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT		APP
#605751 SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2;;CONVULSIONS, BENIGN FAMILIAL INFANTILE, 2; BFIC2		PRRT2
#605899 GLYCINE ENCEPHALOPATHY; GCE;;HYPERGLYCINEMIA, NONKETOTIC; NKHHYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED; TNH, INCLUDED		AMT ; GLDC ; GCSH
3-HYDROXY 3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY		HMGCS2
#606054 PROPIONIC ACIDEMIA;;PROPIONYL-COA CARBOXYLASE DEFICIENCY;;PCC DEFICIENCY;;GLYCINEMIA, KETOTIC;;HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA;;KETOTIC HYPERGLYCINEMIA		PCCB ; PCCA
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB		MOGS
606155 FRYNS-AFTIMOS SYNDROME;;PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES;;CEREBROOCULOFACIAL LYMPHATIC SYNDROME;;COFL SYNDROME;;MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES
#606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION		KAT6B
DIABETES MELLITUS, PERMANENT NEONATAL		INS ; KCNJ11 ; GCK ; ABCC8
#606232 CHROMOSOME 22Q13.3 DELETION SYNDROME;;TELOMERIC 22Q13 MONOSOMY SYNDROME;;PHELAN-MCDERMID SYNDROME		SHANK3
#606369 EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE;;ENCEPHALOPATHY OF CHILDHOOD		MAPK10
#606407 HYPOTONIA-CYSTINURIA SYNDROME;;CYSTINURIA WITH MITOCHONDRIAL DISEASE;;HOMOZYGOUS 2P16 DELETION SYNDROME, FORMERLYHOMOZYGOUS 2P21 DELETION SYNDROME, INCLUDED
606519 PHACE ASSOCIATION;;PHACES ASSOCIATION
LYMPHANGIOLEIOMYOMATOSIS		TSC1 ; TSC2
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6		GLUD1
#606777 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1;;GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIERGLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED		SLC2A1
#606812 FUMARASE DEFICIENCY;;FUMARIC ACIDURIA		FH
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL		GPR56
#607136 SPINOCEREBELLAR ATAXIA 17; SCA17;;HUNTINGTON DISEASE-LIKE 4; HDL4		TBP
#607196 MICROCEPHALY, AMISH TYPE; MCPHA;;AMISH LETHAL MICROCEPHALY;;THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE); THMD3		SLC25A19
#607208 DRAVET SYNDROME;;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6;;SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI		SCN1A
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS		ROBO3
#607330 LATHOSTEROLOSIS;;STEROL C5-DESATURASE DEFICIENCY;;SC5D DEFICIENCY		SC5D
FOCAL CORTICAL DYSPLASIA OF TAYLOR		TSC1
AUTISM, SUSCEPTIBILITY TO, 8
#607426 COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1;;COQ10 DEFICIENCY, PRIMARY, 1;;UBIQUINONE DEFICIENCY 1;;COENZYME Q DEFICIENCY 1;;COQ DEFICIENCY 1		COQ2
LISSENCEPHALY 1; LIS1		PAFAH1B1
#607459 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO;;SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMALRECESSIVESPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED; SCAE, INCLUDED		POLG
BASAL GANGLIA DISEASE, BIOTIN-RESPONSIVE		SLC19A3
GRISCELLI SYNDROME, TYPE 2		RAB27A
NIEMANN-PICK DISEASE, TYPE C2		NPC2
EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING
EPILEPSY, JUVENILE ABSENCE
EPILEPSY, CHILDHOOD ABSENCE, 2
#607682 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6, INCLUDED; EJM6,INCLUDED
#607745 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3;;CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; BFIC3;;SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE; BFNIS		SCN2A
ALZHEIMER DISEASE 3		PSEN1
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A		LAMA2
#607872 CHROMOSOME 1P36 DELETION SYNDROME;;MONOSOMY 1P36 SYNDROME
%607876 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2; FAME2;;BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 2; BAFME2;;CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 2; FCMTE2;;CORTICAL MYOCLONUS AND EPILEPSY, AUTOSOMAL DOMINANT; ADCME		FCMTE2
ALG2-CDG SYNDROME		ALG2
#607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6;;MICROPHTHALMIA AND PITUITARY ANOMALIES;;MICROPHTHALMIA WITH BRAIN AND DIGIT DEVELOPMENTAL ANOMALIES;;ANOPHTHALMIA, CLINICAL, WITH MICROGNATHIA, MALFORMED EARS, DIGITALANOMALIES, AND ABNORMAL EXTERNAL GENITALIA		BMP4
GAUCHER DISEASE, PERINATAL LETHAL		GBA
%608027 PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3;;CEREBELLAR ATROPHY WITH PROGRESSIVE MICROCEPHALY; CLAM;;PCH WITH OPTIC ATROPHY		CLAM
#608033 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3;;ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO; ANE		RANBP2
AUTISM, SUSCEPTIBILITY TO, 3
#608093 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ; CDG1J;;CDG IJ; CDGIJ		DPAGT1
EPILEPSY, FAMILIAL TEMPORAL LOBE
#608097 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE;;PERIVENTRICULAR NODULAR HETEROTOPIA 2; PVNH2;;PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE;ARPHM		ARFGEF2
EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA ANDWRITER'S CRAMP
%608154 LIPODYSTROPHY, GENERALIZED, WITH MENTAL RETARDATION, DEAFNESS, SHORTSTATURE, AND SLENDER BONES
EPILEPSY, BENIGN NEONATAL, 3
608278 GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY
#608363 CHROMOSOME 22Q11.2 DUPLICATION SYNDROME;;CHROMOSOME 22Q11.2 MICRODUPLICATION SYNDROME
#608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK; CDG1K;;CDG IK; CDGIK		ALG1
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY		RPIA
AUTISM, SUSCEPTIBILITY TO, 4
#608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY;;ATIC DEFICIENCY;;AICA-RIBOSURIA DUE TO ATIC DEFICIENCY		ATIC
#608709 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD;;APLD, SUSCEPTIBILITY TO;;BARRAQUER-SIMONS SYNDROME;;LIPODYSTROPHY, CEPHALOTHORACIC TYPE;;LIPODYSTROPHY, PARTIAL, PROGRESSIVE
WEGENER GRANULOMATOSIS
#608716 MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5		ASPM
ALG9-CDG SYNDROME		ALG9
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY		PDP1
#608799 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE; CDG1E;;CDG IE; CDGIE		DPM1
PELIZAEUS-MERZBACHER-LIKE DISEASE, AUTOSOMAL RECESSIVE, 1		GJC2
608809 LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA;LACH
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL		CPT2
#609029 EMANUEL SYNDROME;;SUPERNUMERARY DER(22)T(11;22) SYNDROME
609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE
CEROID LIPOFUSCINOSIS, NEURONAL, 9		CLN9
AMISH INFANTILE EPILEPSY SYNDROME		ST3GAL5
#609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURGSYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH;;WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT		SOX10
MPDU1-CDG SYNDROME		MPDU1
SCHINDLER DISEASE, TYPE I		NAGA
FEBRILE CONVULSIONS, FAMILIAL, 6		FEB6
FEBRILE CONVULSIONS, FAMILIAL, 5		FEB5
#609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3; PEOA3;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 3		C10ORF2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3		SLC25A22
CEREBRO-RENO-DIGITAL SYNDROME
609438 MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK
GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA		KCNMA1
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME		KIAA1279
#609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMASYNDROME;;CEDNIK SYNDROME		SNAP29
#609560 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2;;MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED		TK2
#609625 CHROMOSOME 10Q26 DELETION SYNDROME;;TERMINAL CHROMOSOME 10Q26 DELETION SYNDROME
MIGRAINE, FAMILIAL HEMIPLEGIC, 3		SCN1A
#609734 PROOPIOMELANOCORTIN DEFICIENCY;;OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR		POMC
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 4
AMINOACYLASE 1 DEFICIENCY		ACY1
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5		INSR
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4		HADH
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT		CLN8
2-@METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY		ACADSB
#610015 GLUTAMINE DEFICIENCY, CONGENITAL;;GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC		GLUL
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7		SLC16A1
#610031 POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC; PMGYSA		TUBB2B
#610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME;;CDFE SYNDROMEPITT-HOPKINS-LIKE SYNDROME 1, INCLUDED; PTHSL1, INCLUDED		CNTNAP2
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY		PNPO
#610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED		OTX2
#610127 CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10;;CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT;;NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCYNEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL, INCLUDED		CTSD
#610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4; PEOA4;;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT, 4		POLG2
OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET
#610217 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B;;NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED;;NEUROAXONAL DYSTROPHY, ATYPICALKARAK SYNDROME, INCLUDED		PLA2G6
#610253 KLEEFSTRA SYNDROME;;CHROMOSOME 9Q34.3 DELETION SYNDROME;;9Q- SYNDROME;;9Q SUBTELOMERIC DELETION SYNDROME		EHMT1
PACHYGYRIA, FRONTOTEMPORAL
GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY		PIGM
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4		CHRNA2
#610377 MEVALONIC ACIDURIA; MEVA		MVK
#610443 KOOLEN-DE VRIES SYNDROME; KDVS;;CHROMOSOME 17Q21.31 DELETION SYNDROME;;MICRODELETION 17Q21.31 SYNDROME		KANSL1
#610505 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3;;ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS;;CONCENTRIC CARDIOMYOPATHY, HYPOTONIA, AND LACTIC ACIDOSIS		TSFM
#610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5;;HYPOMYELINATION AND CONGENITAL CATARACT: HCC		FAM126A
#610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA;;MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM;;GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,AND CLEFT PALATE		EFTUD2
#610539 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY		PSAP
CHROMOSOME 16P13.3 DELETION SYNDROME
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3; SCN3		HAX1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM		DOLK
#610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17P11.2 DUPLICATION SYNDROME
#610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7		MFSD8
#610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION		TCF4
PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY		PSAT1
#611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5		MRT5 ; NSUN2
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2
#611182 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH; CDG2H;;CDG IIH; CDGIIH		COG8
#611225 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18;;INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES;IDMDC		SPG18 ; ERLIN2
#611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3;;GEFS+, TYPE 3; GEFS+3FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED; FEB8, INCLUDED		GABRG2
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4; EJM4
#611523 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6;;ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAINDEFECTS		RARS2
#611556 GLYCOGEN STORAGE DISEASE 0, MUSCLE;;GSD 0B; GSD0B;;MUSCLE GLYCOGEN STORAGE DISEASE 0;;MUSCLE GLYCOGEN SYNTHASE DEFICIENCY		GYS1
#611603 LISSENCEPHALY 3; LIS3		TUBA1A
%611630 EPILEPSY, FAMILIAL TEMPORAL LOBE, 3; ETL3;;EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE; FMTLE
EPILEPSY, FAMILIAL TEMPORAL LOBE, 4
FEBRILE CONVULSIONS, FAMILIAL, 9
#611718 HYPOMAGNESEMIA 4, RENAL; HOMG4;;HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC		EGF
#611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5		MRPS22
#611721 COMBINED SAPOSIN DEFICIENCY;;PROSAPOSIN DEFICIENCY; PSAPD;;COMBINED SAP DEFICIENCY		PSAP
#611726 EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS;EPM3;;CEROID LIPOFUSCINOSIS, NEURONAL, 14; CLN14		KCTD7
#611755 LEBER CONGENITAL AMAUROSIS 10; LCA10		CEP290
%611816 TEMPLE-BARAITSER SYNDROME;;MENTAL RETARDATION, SEVERE, AND ABSENT NAILS OF HALLUX AND POLLEX
CHROMOSOME 22Q11.2 DELETION SYNDROME, DISTAL
16P11.2 MICRODELETION SYNDROME
#611936 CHROMOSOME 3Q29 DUPLICATION SYNDROME;;MICRODUPLICATION 3Q29 SYNDROME
#611938 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2; CPVT2;;VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC; VTSIP		CASQ2
611961 STEVENSON-CAREY SYNDROME
CHROMOSOME 15Q13.3 MICRODELETION SYNDROME
#612015 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN; CDG1N;;CDG IN; CDGIN		RFT1
#612016 COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4;;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9; SCAR9		ADCK3
#612073 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONICACIDURIA); MTDPS5;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITHMETHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED		SUCLA2
#612075 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITHRENAL TUBULOPATHY); MTDPS8A;;MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENALTUBULOPATHY, AUTOSOMAL RECESSIVEMITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDP8B,INCLUDED;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, RRM2B-RELATED,INCLUDED;;MNGIE, RRM2B-RELATED, INCLUDED		RRM2B
#612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4		STXBP1
#612199 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS; CRMCC;;COATS PLUS SYNDROME		CTC1
#612233 LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4;;MITOCHONDRIAL HSP60 CHAPERONOPATHY;;MITCHAP60 DISEASE		HSPD1
#612269 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		GABRB3
#612304 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE; THPH4;;PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE;;PROC DEFICIENCY, AUTOSOMAL RECESSIVE		PROC
#612313 CHROMOSOME 2Q32-Q33 DELETION SYNDROME
#612319 SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE; SPG35;;FATTY ACID HYDROXYLASE-ASSOCIATED NEURODEGENERATION; FAHN;;LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUTDYSTONIA		FA2H
#612337 CHROMOSOME 1Q43-Q44 DELETION SYNDROME;;CHROMOSOME 1QTER DELETION SYNDROME
#612437 EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B		PRICKLE1
LEUKODYSTROPHY, HYPOMYELINATING, 6
#612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C;;PHP IC		GNAS
#612474 CHROMOSOME 1Q21.1 DELETION SYNDROME, 1.35-MB
#612475 CHROMOSOME 1Q21.1 DUPLICATION SYNDROME
#612530 CHROMOSOME 1Q41-Q42 DELETION SYNDROME;;HOLOPROSENCEPHALY 10, INCLUDED; HPE10, INCLUDED
#612582 CHROMOSOME 6PTER-P24 DELETION SYNDROME
#612621 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5		SYNGAP1
#612656 EPISODIC ATAXIA, TYPE 6; EA6		SLC1A3
#612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY;;SEPIAPTERIN REDUCTASE DEFICIENCY;;SPR DEFICIENCY		SPR
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY		GAMT
#612780 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, ANDELECTROLYTE IMBALANCE; SESAMES;;SESAME SYNDROME;;EPILEPSY, ATAXIA, SENSORINEURAL DEAFNESS, AND TUBULOPATHY;;EAST SYNDROME		KCNJ10
6Q25 MICRODELETION SYNDROME
#612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLYDEATH; GDFD		FTO
612947 MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE
HYPOMYELINATION, GLOBAL CEREBRAL		SLC25A12
#612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY		RNASET2
%613001 ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL
#613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITYTO, INCLUDED; GEFS5, INCLUDED;;GEFS+, TYPE 5, SUSCEPTIBILITY TO, INCLUDED;;GEFS+5, SUSCEPTIBILITY TO, INCLUDED;;GEFSP5, SUSCEPTIBILITY TO, INCLUDED;;EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 7, INCLUDED; EJM7,INCLUDED
NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY		FOLR1
#613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2; MDDGA2;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED		POMT2
#613159 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1		XPNPEP3
BETA-UREIDOPROPIONASE DEFICIENCY		UPB1
GABA-TRANSAMINASE DEFICIENCY		ABAT
CHROMOSOME 5P13 DUPLICATION SYNDROME
POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA		TUBA8
#613192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13		TRAPPC9
#613254 TUBEROUS SCLEROSIS 2; TSC2TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED		TSC2
613328 ROIFMAN-CHITAYAT SYNDROME;;COMBINED IMMUNODEFICIENCY, FACIAL DYSMORPHISM, OPTIC NERVE ATROPHY,SKELETAL ANOMALIES, AND DEVELOPMENTAL DELAY
EPILEPSY, HOT WATER, 1; HWE1
#613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10;;MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ		PNKP
#613406 CHROMOSOME 15Q24 DELETION SYNDROMECHROMOSOME 15Q24 DUPLICATION SYNDROME, INCLUDED
#613443 MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRALMALFORMATIONS;;CHROMOSOME 5Q14.3 DELETION SYNDROME		MEF2C
#613454 RETT SYNDROME, CONGENITAL VARIANT		FOXG1
#613457 CHROMOSOME 14Q11-Q22 DELETION SYNDROME
#613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5		SPTAN1
#613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ; CDG2J;;CDG IIJ; CDGIIJ		COG4
#613509 CHROMOSOME 4Q21 DELETION SYNDROME
%613608 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3; FAME3;;CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 3; FCMTE3
#613661 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP; CDG1P		ALG11
#613662 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B;;MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED;;MNGIE, POLG-RELATED		POLG
#613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY		MED17
#613675 CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB;;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;;NF1 MICRODELETION SYNDROMENF1 MICRODUPLICATION SYNDROME, INCLUDED
#613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7		KCNQ2
#613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11		SCN2A
#613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12		PLCB1
DISTAL 7Q11.23 MICRODELETION SYNDROME
#613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,AND CATARACTS		JAM3
#613735 CHROMOSOME 1P32-P31 DELETION SYNDROME
#613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY		AP4E1
#613759 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, ANDCARDIOVASCULAR MALFORMATIONS;;FADD DEFICIENCY		FADD
#613792 CHROMOSOME 3PTER-P25 DELETION SYNDROME;;3P- SYNDROME
#613811 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D;;CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE; PCCA;;CEREBELLO-CEREBRAL ATROPHY, PROGRESSIVE		SEPSECS
#613832 EPILEPSY, PROGRESSIVE MYOCLONIC 5; EPM5		PRICKLE2
#613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY;;DHFR DEFICIENCY		DHFR
#613863 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7;;GEFS+, TYPE 7; GEFS+7FEBRILE SEIZURES, FAMILIAL, 3B, INCLUDED; FEB3B, INCLUDED		SCN9A
#613925 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A		HEPACAM
#613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; EPND		GRIN2A
#614018 EPILEPSY, PROGRESSIVE MYOCLONIC 6; EPM6		GOSR2
#614019 LISSENCEPHALY 4; LIS4;;LISSENCEPHALY 4, WITH MICROCEPHALY		NDE1
#614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; CDCBM		TUBB3
#614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1		PIGN
614098 KEPPEN-LUBINSKY SYNDROME; KPLBS
#614115 CORTICAL MALFORMATIONS, OCCIPITAL; OCCM		LAMC3
#614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15		MAN1B1
#614212 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4
#614219 ADAMS-OLIVER SYNDROME 2; AOS2		DOCK6
#614231 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS		IER3IP1
#614253 AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME; AIGFS		FAM20A
%614261 MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME; MICCAP
%614280 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9; EJM9
TETRASOMY 18P
#614299 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2; MMDS2		BOLA3
#614300 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY		ADK
#614307 ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY; AMACRD;;AMACR DEFICIENCY		AMACR
%614322 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12;;SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
#614399 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET;EMARDDMYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET,MILD VARIANT, INCLUDED		MEGF10
#614418 FEBRILE SEIZURES, FAMILIAL, 11; FEB11;;CONVULSIONS, FAMILIAL FEBRILE, 11		CPA6
#614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION; ISQMR		ELOVL4
#614458 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHYTYPE); THMD5;;ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY		TPK1
#614462 PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD		LIAS
#614482 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND		SLC33A1
#614483 PORENCEPHALY 2; POREN2		COL4A2
#614487 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5		AFG3L2
#614498 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL		BRAT1
#614501 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM;PMRED		SNIP1
614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY
#614526 CHROMOSOME 17Q12 DUPLICATION SYNDROME
#614527 CHROMOSOME 17Q12 DELETION SYNDROME
#614558 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13		SCN8A
#614559 INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		ACO2
%614561 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS; LCC;;LABRUNE SYNDROME
#614576 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL; CDG2L;;CDG IIL; CDGIIL		COG6
#614594 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTICPLAQUES;;OLMSTED SYNDROME; OLMS		TRPV3
#614650 COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6		COQ6
#614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3		PDSS2
16P11.2P12.2 MICRODUPLICATION SYNDROME
614688 PONTINE TEGMENTAL CAP DYSPLASIA; PTCD
#614706 CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11		GRN
#614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK; CDG2K;;CDG IIK; CDGIIK		TMEM165
#614739 3-@METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKESYNDROME; MEGDEL		SERAC1
#614741 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY; MPYCD		MPC1
#614749 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2		PIGO
#614820 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2		ATP1A3
#614831 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		GRM1
#614833 POLYMICROGYRIA WITH SEIZURES; PMGYS		RTTN
#614845 NEPHRONOPHTHISIS 15; NPHP15		CEP164
#614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12
#614851 SECKEL SYNDROME 7; SCKL7		NIN
#614859 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 3, INCLUDED;CG3, INCLUDED		PEX12
#614862 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED;CG4, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6, INCLUDED;CG6, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C, INCLUDED;CGC, INCLUDED		PEX6
#614866 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5, INCLUDED;CG5, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10, INCLUDED;CG10, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F, INCLUDED;CGF, INCLUDED		PEX2
#614870 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER); PBD6APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 7, INCLUDED;CG7, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP B, INCLUDED;CGB, INCLUDED		PEX10
#614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8, INCLUDED;CG8, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A, INCLUDED;CGA, INCLUDED		PEX26
#614876 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 9, INCLUDED;CG9, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP D, INCLUDED;CGD, INCLUDED		PEX16
#614882 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 12, INCLUDED;CG12, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP G, INCLUDED;CGG, INCLUDED		PEX3
#614883 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 13, INCLUDED;CG13, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP H, INCLUDED;CGH, INCLUDED		PEX13
#614886 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 14, INCLUDED;;CG14, INCLUDED;;PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP J, INCLUDED;;CGJ, INCLUDED		PEX19
#614887 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13APEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K, INCLUDED;CGK, INCLUDED		PEX14
#614923 BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD;;BCKDK DEFICIENCY		BCKDK
#614924 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12;;LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGHLACTATE; LTBL		EARS2
#614946 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14		FARS2
#614947 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15		MTFMT
#614959 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14; EIEE14		KCNT1
%614969 PONTOCEREBELLAR HYPOPLASIA, TYPE 7; PCH7
#615005 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5		KCNT1
#615006 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15		ST3GAL3
#615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49		TECPR2
#615182 COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD		SLC25A1
#615191 LISSENCEPHALY 5; LIS5		LAMB1
48,XXYY SYNDROME
ATAXIA-TELANGIECTASIA		ATM
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME		CEP57 ; BUB1B
SHORT STATURE - HEART DEFECT - CRANIOFACIAL ANOMALIES
ARTHROGRYPOSIS - EPILEPTIC SEIZURES - MIGRATIONAL BRAIN DISORDER
FACIAL ASYMMETRY - TEMPORAL SEIZURES
INTELLECTUAL DEFICIT - ATHETOSIS- MICROPHTHALMIA
CHRONIC MUCOCUTANEOUS CANDIDIASIS		IL17F ; IL17RA ; CLEC7A ; STAT1 ; CARD9 ; ICAM1
MICROCEPHALY - INTELLECTUAL DEFICIT - PHALANGEAL AND NEUROLOGICAL ANOMALIES
ISOLATED CEREBELLAR HYPOPLASIA/AGENESIS
RING CHROMOSOME 10
COFFIN-SIRIS SYNDROME		ARID1B ; ARID1A ; SMARCB1 ; SMARCA4
COFS SYNDROME		ERCC1 ; ERCC2 ; ERCC5 ; ERCC6
COGAN SYNDROME
MULTIPLE CARBOXYLASE DEFICIENCY
CUTIS VERTICIS GYRATA - INTELLECTUAL DEFICIT
DANDY WALKER - FACIAL HEMANGIOMA
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY
KNOBLOCH SYNDROME		COL18A1 ; ADAMTS18
DELETION 20P
FEBRILE INFECTION-RELATED EPILEPSY SYNDROME
DENNIS-COHEN SYNDROME
LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS
MOSAIC TRISOMY 14
DISTAL TRISOMY 15Q
CRANIOSYNOSTOSIS - HYDROCEPHALUS - CHIARI I MALFORMATION - RADIOULNAR SYNOSTOSIS
DYSEQUILIBRIUM SYNDROME		CA8 ; VLDLR ; ATP8A2 ; WDR81
CENTRAL DIABETES INSIPIDUS
EPIPHYSEAL DYSPLASIA - HEARING LOSS - DYSMORPHISM
MUSCULAR DYSTROPHY - WHITE MATTER SPONGIOSIS
SYSTEMIC CAPILLARY LEAK SYNDROME
COCKAYNE SYNDROME
EMBRYOFETOPATHY DUE TO ORAL ANTICOAGULANT THERAPY
FRONTAL ENCEPHALOCELE
BENIGN FAMILIAL NEONATAL SEIZURES		KCNQ2 ; KCNQ3
BILATERAL STRIOPALLIDODENTATE CALCINOSIS		SLC20A2 ; PDGFRB
CORNELIA DE LANGE SYNDROME		SMC1A ; HDAC8 ; SMC3 ; NIPBL ; RAD21
COWDEN SYNDROME		AKT1 ; SDHD ; PIK3CA ; SDHB ; KLLN ; PTEN
FOIX-CHAVANY-MARIE SYNDROME
CRIGLER-NAJJAR SYNDROME
X-LINKED INTELLECTUAL DEFICIT - EPILEPSY
CUTIS LAXA
GRIX-BLANKENSHIP-PETERSON SYNDROME
HERNANDEZ-AGUIRRE NEGRETE SYNDROME
NODULAR NEURONAL HETEROTOPIA
HIRSCHSPRUNG DISEASE - GANGLIONEUROBLASTOMA
NEURONAL CEROID LIPOFUSCINOSIS
HOLOPROSENCEPHALY
JOUBERT SYNDROME WITH OCULAR DEFECT		CEP41 ; AHI1 ; TMEM237 ; KIF7 ; TMEM231
JOUBERT SYNDROME WITH RENAL DEFECT		NPHP1 ; ATXN10 ; TMEM237 ; RPGRIP1L ; TCTN2
MATERNAL HYPERTHERMIA INDUCED BIRTH DEFECTS
FAMILIAL ISOLATED HYPOPARATHYROIDISM
PONTOCEREBELLAR HYPOPLASIA TYPE 1		EXOSC3 ; VRK1
2Q23.1 MICRODELETION SYNDROME		MBD5
JOUBERT SYNDROME WITH OCULORENAL DEFECT		ZNF423 ; TMEM216 ; TMEM237 ; CC2D2A ; CEP290 ; TMEM138
KABUKI SYNDROME		KMT2D ; KDM6A
KENNY-CAFFEY SYNDROME
ANGIO-OSTEOHYPERTROPHIC SYNDROME
1Q44 MICRODELETION SYNDROME
CENTRAL BILATERAL MACROGYRIA
MICRO SYNDROME		RAB3GAP2 ; RAB18 ; RAB3GAP1
2Q31.1 MICRODELETION SYNDROME
8P11.2 DELETION SYNDROME		ANK1
MICROCEPHALY - SEIZURES - INTELLECTUAL DEFICIT - HEART DISEASE
19P13.12 MICRODELETION SYNDROME
MIDAS SYNDROMEMICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME		HCCS ; COX7B
MOYAMOYA DISEASE		RNF213 ; ACTA2
MYOPATHY - GROWTH DELAY - INTELLECTUAL DEFICIT - HYPOSPADIAS
LINEAR VERRUCOUS NEVUS SYNDROME
14Q12 MICRODELETION SYNDROME		FOXG1
15Q14 MICRODELETION SYNDROME
16P13.11 MICRODELETION SYNDROME
16Q24.3 MICRODELETION SYNDROME		ANKRD11
20P12.3 MICRODELETION SYNDROME		BMP2
DISTAL 22Q11.2 MICRODUPLICATION SYNDROME
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES 1 AND 3		RNU4ATAC
THANATOPHORIC DYSPLASIA
INFANTILE AXONAL NEUROPATHY
PORT-WINE NEVI - MEGA CISTERNA MAGNA - HYDROCEPHALUS
OCULODENTODIGITAL DYSPLASIA		GJA1
OLIVOPONTOCEREBELLAR ATROPHY - DEAFNESS
JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT		TCTN3 ; OFD1 ; TMEM216 ; KIF7
L1 SYNDROME
10Q22.3Q23.3 MICRODELETION SYNDROME
SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS
OSTEOGENESIS IMPERFECTA - RETINOPATHY - SEIZURES - INTELLECTUAL DEFICIT
ALOPECIA-INTELLECTUAL DEFICIT SYNDROME
PHAKOMATOSIS PIGMENTOVASCULARIS
CONGENITAL RUBELLA SYNDROME
PORENCEPHALY
LEUKOCYTE ADHESION DEFICIENCY
PSEUDO-ZELLWEGER SYNDROME
BARAITSER-WINTER SYNDROME		ACTG1 ; ACTB
INTELLECTUAL DEFICIT - HYPOCUPREMIA - HYPOBETALIPOPROTEINEMIA
INTELLECTUAL DEFICIT, X-LINKED - SHORT STATURE - OBESITY
BENIGN FAMILIAL INFANTILE SEIZURES		KCNQ2 ; KCNQ3 ; PRRT2 ; SCN2A
ATYPICAL RETT SYNDROME		CDKL5 ; NTNG1 ; MECP2 ; FOXG1
SEVERE CANAVAN DISEASE		ASPA
INFANTILE SPASMS - BROAD THUMBS
SPASTICITY - INTELLECTUAL DEFICIT - X-LINKED EPILEPSY		ARX
LUJO HEMORRHAGIC FEVER
EBOLA HEMORRHAGIC FEVER
RIFT VALLEY FEVER
HEREDITARY HYPEREKPLEXIA		GPHN ; SLC6A5 ; GLRB ; GLRA1
DEAFNESS - ONYCHODYSTROPHY
CENTRAL NERVOUS SYSTEM CALCIFICATION - DEAFNESS - TUBULAR ACIDOSIS - ANEMIA
TRISOMY X
TRISOMY 13
VIRAL HEMORRHAGIC FEVER
FAMILIAL MEDITERRANEAN FEVER		MEFV
WEAVER-WILLIAMS SYNDROME
WHIPPLE DISEASE
WOLFRAM SYNDROME		WFS1 ; CISD2
INFANTILE NEUROAXONAL DYSTROPHY		PLA2G6 ; FA2H
GALACTOSEMIA
GM1 GANGLIOSIDOSIS
GAUCHER DISEASE
GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY
HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS
GRISCELLI DISEASE
HYPOPHOSPHATASIA
NEONATAL ADRENOLEUKODYSTROPHY		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
JOUBERT SYNDROME		CEP41 ; TCTN1 ; TMEM67 ; ARL13B ; TMEM237 ; KIF7 ; INPP5E ; TMEM231 ; C5ORF42
LEIGH SYNDROME
MICROLISSENCEPHALY - MICROMELIA
AICARDI-GOUTIERES SYNDROME		ADAR ; RNASEH2A ; RNASEH2C ; TREX1 ; RNASEH2B ; SAMHD1
MAPLE SYRUP URINE DISEASE
METACHROMATIC LEUKODYSTROPHY
WYBURN-MASON SYNDROME
22Q11.2 DELETION SYNDROME		HIRA ; GP1BB ; COMT ; TBX1 ; UFD1L ; ARVCF
MICROPHTHALMIA, LENZ TYPE		BCOR
MONILETHRIX		DSG4 ; KRT81 ; KRT86 ; KRT83
MUCOPOLYSACCHARIDOSIS TYPE 3
MUSCLE EYE BRAIN DISEASE		FKRP ; POMGNT1 ; LARGE ; B3GALNT2 ; POMT1 ; POMT2
X-LINKED CENTRONUCLEAR MYOPATHY		MAMLD1 ; MTM1
HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA
NEUROFIBROMATOSIS TYPE 1		NF1
NIEMANN-PICK DISEASE TYPE C
NEVUS COMEDONICUS SYNDROME
LEBER CONGENITAL AMAUROSIS		LRAT ; CRX ; IMPDH1 ; NMNAT1 ; RD3 ; TULP1 ; RPGRIP1 ; CEP290 ; IQCB1 ; KCNJ13 ; LCA5 ; RDH12 ; AIPL1 ; GUCY2D ; RPE65 ; SPATA7 ; GDF6 ; CRB1
CUTIS VERTICIS GYRATA
PELIZAEUS-MERZBACHER DISEASE
FAMILIAL THROMBOCYTOSIS		JAK2 ; MPL ; THPO
HENOCH-SCHÖNLEIN PURPURA
PYRUVATE DEHYDROGENASE DEFICIENCY
POLYARTERITIS NODOSA
RABIES
INFANTILE REFSUM DISEASE		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
MONOSOMY 9Q22.3
RENDU-OSLER-WEBER DISEASE		ENG ; SMAD4 ; ACVRL1
RUBINSTEIN-TAYBI SYNDROME		EP300 ; CREBBP
CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4		AMACR
CLASSICAL PHENYLKETONURIA		PAH
ADULT NEURONAL CEROID LIPOFUSCINOSIS
INFANTILE NEURONAL CEROID LIPOFUSCINOSIS
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
SCLERODERMA
TUBEROUS SCLEROSIS		TSC1 ; TSC2
MIXED CONNECTIVE TISSUE DISEASE
SOTOS SYNDROME		NSD1 ; NFIX
ISOLATED SPINA BIFIDA
ENCEPHALOPATHY DUE TO SULFITE OXIDASE DEFICIENCY
SCRUB TYPHUS
FREE SIALIC ACID STORAGE DISEASE
INTELLECTUAL DEFICIT, X-LINKED, CANTAGREL TYPE		KIAA2022
INTELLECTUAL DEFICIT, X-LINKED - HYPOGAMMAGLOBULINEMIA - PROGRESSIVE NEUROLOGICAL DETERIORATION
INTELLECTUAL DEFICIT, X-LINKED, PAI TYPE
X-LINKED NEURODEGENERATIVE SYNDROME, BERTINI TYPE
X-LINKED NEURODEGENERATIVE SYNDROME, HAMEL TYPE
X-LINKED INTELLECTUAL DEFICIT - ATAXIA - APRAXIA
CONGENITAL TOXOPLASMOSIS
BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY
SIALIDOSIS TYPE 2
WALKER-WARBURG SYNDROME		FKRP ; FKTN ; POMGNT1 ; LARGE ; B3GNT1 ; GTDC2 ; COL4A1 ; B3GALNT2 ; ISPD ; POMT1 ; TMEM5 ; POMT2
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2		ATP6V0A2 ; PYCR1
PRIMARY INTESTINAL LYMPHANGIECTASIA
XERODERMA PIGMENTOSUM
ZELLWEGER SYNDROME		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
PFEIFFER SYNDROME TYPE 2		FGFR2
PFEIFFER SYNDROME TYPE 3		FGFR2
THANATOPHORIC DWARFISM TYPE II		FGFR3
X-LINKED INTELLECTUAL DEFICIT, GOLABI-ITO-HALL TYPE		PQBP1
SEVERE INTELLECTUAL DEFICIT - EPILEPSY - ANAL ANOMALIES - DISTAL PHALANGEAL HYPOPLASIA
PITUITARY STALK INTERRUPTION SYNDROME		HESX1 ; LHX4
DISTAL MONOSOMY 19P13.3
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION		EHMT1
48,XXXY SYNDROME
49,XXXXY SYNDROME
BROWN-VIALETTO-VAN LAERE SYNDROME		SLC52A3 ; SLC52A2
ADAMS-OLIVER SYNDROME		DOCK6 ; EOGT ; RBPJ ; ARHGAP31
LASSA FEVER
NIPAH VIRUS DISEASE