Name		Synonyms
Abnormal facial shape		Craniofacial abnormalities Craniofacial dysmorphism Distinctive facies Dysmorphic facial features Dysmorphic facies Facial dysmorphism Unusual facial appearance Unusual facies

Primary ID		Alternative IDs
HP:0001999		HP:0002004 HP:0002260 HP:0004643 HP:0004649 HP:0004652 HP:0004655 HP:0004675 HP:0005124

Term definition
An abnormal morphology (form) of the face or its components.

Super-classes (vis)		Sub-classes (vis)
Abnormality of the face		Malar flattening ; Coarse facial features ; Facial asymmetry ; Long face ; Round face ; Triangular face ; Narrow face ; Large face ; Small face ; Broad face ; Square face ; Elfin facies ; Doll-like facies ; Oval face ; Bird-like facies ; Facial shape deformation ; Craniofacial disproportion ; Short face

Diseases / genes associated with this term

Disease		Gene(s)
XQ28 (MECP2) DUPLICATION
15Q26 OVERGROWTH SYNDROME
ACHONDROPLASIA		FGFR3
ACROCEPHALOPOLYSYNDACTYLY TYPE III
APERT SYNDROME		FGFR2
#101400 SAETHRE-CHOTZEN SYNDROME; SCS;;ACROCEPHALOSYNDACTYLY, TYPE III; ACS3;;ACS III;;CHOTZEN SYNDROME;;ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYSAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED;;BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED;BPES3, FORMERLY, INCLUDED		TWIST1 ; FGFR2
PFEIFFER SYNDROME		FGFR1 ; FGFR2
ACROMEGALOID FACIAL APPEARANCE SYNDROME
PITUITARY ADENOMA, GROWTH HORMONE-SECRETING		SSTR5 ; GNAS ; AIP
ACROMICRIC DYSPLASIA		FBN1
AGLOSSIA-ADACTYLIA
#103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A;;PHP IA;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITH MULTIPLE HORMONE RESISTANCE		GNAS
ANGELMAN SYNDROME		CDKL5 ; MECP2 ; UBE3A
ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE		TP63
TOWNES-BROCKS SYNDROME		SALL1
AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION
ARTHROGRYPOSIS MULTIPLEX CONGENITA
ARTHROGRYPOSIS, DISTAL, TYPE 5
STICKLER SYNDROME, TYPE I		COL2A1
#108720 ATELOSTEOGENESIS, TYPE I; AOI;;GIANT CELL CHONDRODYSPLASIA;;SPONDYLOHUMEROFEMORAL HYPOPLASIA		FLNB
ATELOSTEOGENESIS, TYPE III		FLNB
AUROCEPHALOSYNDACTYLY
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES
BASAL CELL NEVUS SYNDROME		PTCH1
%109500 BASILAR IMPRESSION, PRIMARY
BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS,AND DISTINCTIVE FACIAL FEATURES
BRACHYDACTYLY, TYPE E		HOXD13
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II
113450 BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
BRACHYMORPHISM-ONYCHODYSPLASIA-DYSPHALANGISM 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
BRANCHIOOTORENAL SYNDROME 1		EYA1
CAFFEY DISEASE		COL1A1
CAMPOMELIC DYSPLASIA		SOX9
GORDON SYNDROME
114620 CRANIOFACIOFRONTODIGITAL SYNDROME;;CANTU CRANIOFACIOFRONTODIGITAL SYNDROME
CARDIOFACIOCUTANEOUS SYNDROME		MAP2K1 ; MAP2K2 ; KRAS ; BRAF
117650 CEREBROCOSTOMANDIBULAR SYNDROME;;CCM SYNDROME; CCMS;;RIB GAP DEFECTS WITH MICROGNATHIA
#118100 KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1;;KFS;;CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT		GDF6
118230 CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE
#118400 CHERUBISM;;CRBM		SH3BP2
#118450 ALAGILLE SYNDROME 1; ALGS1;;ALAGILLE SYNDROME; ALGS;;ALAGILLE-WATSON SYNDROME; AWS;;CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS;;ARTERIOHEPATIC DYSPLASIA; AHD;;HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC		JAG1
%118651 CHONDRODYSPLASIA PUNCTATA, TIBIA-METACARPAL TYPE;;CHONDRODYSPLASIA PUNCTATA, MT TYPE
#119600 CLEIDOCRANIAL DYSPLASIA; CCD;;CLEIDOCRANIAL DYSOSTOSIS; CLCDCLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED;;CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INCLUDED		RUNX2
CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS,UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION
CORTICOTROPIN-RELEASING HORMONE		CRH
CRANIOACROFACIAL SYNDROME
CRANIOFACIAL-DEAFNESS-HAND SYNDROME		PAX3
122900 CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA;;OSTEOSCLEROSIS, STANESCU TYPE
JACKSON-WEISS SYNDROME		FGFR1 ; FGFR2
CRI-DU-CHAT SYNDROME		CTNND2
#123500 CROUZON SYNDROME;;CRANIOFACIAL DYSOSTOSIS, TYPE I; CFD1;;CROUZON CRANIOFACIAL DYSOSTOSIS		FGFR2
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON		FGFR2
CYPRUS FACIAL-NEUROMUSCULOSKELETAL SYNDROME
DEAFNESS-CRANIOFACIAL SYNDROME
CAYLER CARDIOFACIAL SYNDROME
126190 DISPROPORTIONATE SHORT STATURE WITH PTOSIS AND VALVULAR HEART LESIONS
RAPP-HODGKIN SYNDROME		TP63
129540 ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET
%129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1; EEC1;;EEC;;EEC SYNDROME 1		EEC1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT		COL3A1
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT		COL1A2 ; COL1A1
EHLERS-DANLOS SYNDROME, PROGEROID FORM		B4GALT7
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIED
#130650 BECKWITH-WIEDEMANN SYNDROME; BWS;;EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME;;EMG SYNDROME;;WIEDEMANN-BECKWITH SYNDROME; WBSBECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION, INCLUDED; BWCR, INCLUDED		KCNQ1OT1 ; NSD1 ; CDKN1C ; H19
%130720 LATERAL MENINGOCELE SYNDROME;;LMS;;LEHMAN SYNDROME
#132450 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS;EDMMD		COL2A1
%133190 SPINOCEREBELLAR ATAXIA 34; SCA34;;ERYTHROKERATODERMIA WITH ATAXIA		SCA34
HEMIFACIAL HYPERPLASIA
#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
#136140 FLOATING-HARBOR SYNDROME; FLHS		SRCAP
#136570 CHROMOSOME 16P12.1 DELETION SYNDROME, 520-KBFRAGILE SITE 16P12, INCLUDED		FRA16A
IRIDOGONIODYSGENESIS, TYPE 2		PITX2
GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME
138920 GRANDDAD SYNDROME;;GROWTH RETARDATION, AGED FACIES, NORMAL DEVELOPMENT, DECREASED SUBCUTANEOUSFAT, AUTOSOMAL DOMINANT INHERITANCE
GRANT SYNDROME
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE		SMAD4
HAIRY ELBOWS
HAND AND FOOT DEFORMITY WITH FLAT FACIES
%141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA;;PARRY-ROMBERG SYNDROME
HEMIFACIAL HYPERPLASIA WITH STRABISMUS
HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS
#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
HOLOPROSENCEPHALY 3		SHH
#143880 HYPERCALCEMIA, INFANTILE;;HYPERCALCEMIA, IDIOPATHIC, OF INFANCY		CYP24A1
%145420 HYPERTELORISM, TEEBI TYPE;;BRACHYCEPHALOFRONTONASAL DYSPLASIA
#146000 HYPOCHONDROPLASIA; HCH		FGFR3
CHROMOSOME 18P DELETION SYNDROME
#147060 HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT;;HYPER-IGE SYNDROME, AUTOSOMAL DOMINANT;;HIES, AUTOSOMAL DOMINANT;;JOB SYNDROME		STAT3
JOHNSON NEUROECTODERMAL SYNDROME
JACOBSEN SYNDROME		JBS
KBG SYNDROME		ANKRD11
KLEEBLATTSCHAEDEL SYNDROME
#150250 LARSEN SYNDROME; LRS		FLNB
LEOPARD SYNDROME 1		PTPN11
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE		COL2A1
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2		LMNA
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE		AFD1 ; SF3B4
#154500 TREACHER COLLINS SYNDROME 1; TCS1;;TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF;;TREACHER COLLINS SYNDROME; TCS;;MANDIBULOFACIAL DYSOSTOSIS; MFD1		TCOF1
#154700 MARFAN SYNDROME; MFS;;MARFAN SYNDROME, TYPE I; MFS1		FBN1
MARSHALL SYNDROME		COL11A1
%155050 MAXILLONASAL DYSPLASIA, BINDER TYPE;;BINDER SYNDROME
%155310 MEGADUODENUM AND/OR MEGACYSTISPSEUDOOBSTRUCTION, IDIOPATHIC INTESTINAL;;VISCERAL MYOPATHY, FAMILIAL
DELAYED MEMBRANOUS CRANIAL OSSIFICATION
KNIEST DYSPLASIA		COL2A1
156620 MICROCEPHALY-DEAFNESS SYNDROME
MICROCORNEA, GLAUCOMA, AND ABSENT FRONTAL SINUSES
MICROSPHEROPHAKIA-METAPHYSEAL DYSPLASIA
#157170 HOLOPROSENCEPHALY 2; HPE2		SIX3
MITRAL VALVE PROLAPSE, FAMILIAL		MMVP1
#158170 CHROMOSOME 9P DELETION SYNDROME;;MONOSOMY 9P SYNDROME
#158300 ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7;;TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME;;MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS;;HECHT SYNDROME		MYH8
NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT
AMYOTROPHY, HEREDITARY NEURALGIC		SEPT9
#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
NIEVERGELT SYNDROME
#163950 NOONAN SYNDROME 1; NS1;;NOONAN SYNDROME;;MALE TURNER SYNDROME;;FEMALE PSEUDO-TURNER SYNDROME;;TURNER PHENOTYPE WITH NORMAL KARYOTYPEPTERYGIUM COLLI SYNDROME, INCLUDED		PTPN11
OCULOCEREBROCUTANEOUS SYNDROME
HEMIFACIAL MICROSOMIA
%164220 SCHILBACH-ROTT SYNDROME;;OCULAR HYPOTELORISM, SUBMUCOSAL CLEFT PALATE, AND HYPOSPADIAS;;CLEFT PALATE, HYPOTELORISM, AND HYPOSPADIAS;;BLEPHAROFACIOSKELETAL SYNDROME; BRSS
FEINGOLD SYNDROME		MYCN
OMODYSPLASIA
OROFACIODIGITAL SYNDROME X
OSTEOGLOPHONIC DYSPLASIA		FGFR1
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHY		MAFB
OTODENTAL DYSPLASIA
OTOFACIOCERVICAL SYNDROME		EYA1
CHAR SYNDROME		TFAP2B
#170100 PROLIDASE DEFICIENCY		PEPD
#170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS;;ANDERSEN SYNDROME;;LONG QT SYNDROME 7; LQT7;;PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE;;ANDERSEN-TAWIL SYNDROME; ATS		KCNJ2
+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
PHOCOMELIA-ECTRODACTYLY, EAR MALFORMATION, DEAFNESS, AND SINUS ARRHYTHMIA
PIERRE ROBIN SYNDROME AND OLIGODACTYLY
OROFACIODIGITAL SYNDROME V
#174800 MCCUNE-ALBRIGHT SYNDROME; MAS;;ALBRIGHT SYNDROMEPOLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, INCLUDED		GNAS
HUTCHINSON-GILFORD PROGERIA SYNDROME		LMNA
#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
ROBINOW SYNDROME, AUTOSOMAL DOMINANT		WNT5A
ROBINOW-SORAUF SYNDROME		TWIST1
#180860 SILVER-RUSSELL SYNDROME; SRS;;RUSSELL-SILVER SYNDROME; RSS;;SILVER-RUSSELL DWARFISM		RSS ; H19
SAY SYNDROME
SCHOLTE SYNDROME
SIMOSA CRANIOFACIAL SYNDROME
SHPRINTZEN OMPHALOCELE SYNDROME
#182290 SMITH-MAGENIS SYNDROME; SMS;;CHROMOSOME 17P11.2 DELETION SYNDROMESMITH-MAGENIS CHROMOSOME REGION, INCLUDED; SMCR, INCLUDED		RAI1
SPEECH DEVELOPMENT, DELAYED, WITH FACIAL ASYMMETRY, STRABISMUS, ANDTRANSVERSE EARLOBE CREASE
SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA		COL2A1
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE		COL2A1
184260 SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA;;GOLDBLATT SYNDROME;;ODONTOCHONDRODYSPLASIA; ODCD
STICKLER SYNDROME, TYPE III		COL11A2
#186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1;;SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY;;SYMPHALANGISM-BRACHYDACTYLY SYNDROME;;WL SYNDROME;;DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN;;FACIOAUDIOSYMPHALANGISM SYNDROME		NOG
THANATOPHORIC DYSPLASIA, TYPE I		FGFR3
THANATOPHORIC DYSPLASIA, TYPE II		FGFR3
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE
TORTICOLLIS
TRICHODENTOOSSEOUS SYNDROME		DLX3
DOWN SYNDROMETRISOMY 21, INCLUDED		GATA1 ; DCR
WATSON SYNDROME		NF1
#193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A;;FREEMAN-SHELDON SYNDROME; FSS;;WHISTLING FACE-WINDMILL VANE HAND SYNDROME;;CRANIOCARPOTARSAL DYSTROPHY;;CRANIOCARPOTARSAL DYSPLASIA		MYH3
#194050 WILLIAMS-BEUREN SYNDROME; WBS;;CHROMOSOME 7Q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB;;WILLIAMS SYNDROME; WMS; WS
#194190 WOLF-HIRSCHHORN SYNDROME; WHS;;CHROMOSOME 4P16.3 DELETION SYNDROME;;PITT-ROGERS-DANKS SYNDROME; PRDS;;PITT SYNDROME		WHCR
#200600 ACHONDROGENESIS, TYPE IA; ACG1A;;ACHONDROGENESIS, HOUSTON-HARRIS TYPE		TRIP11
ACHONDROGENESIS, TYPE II		COL2A1
ACRORENAL-MANDIBULAR SYNDROME
#201000 CARPENTER SYNDROME;;ACROCEPHALOPOLYSYNDACTYLY TYPE II;;ACPS II		RAB23
ACRO-FRONTO-FACIO-NASAL DYSOSTOSIS
POR DEFICIENCY		POR
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM		PEX5
ALSTROM SYNDROME		ALMS1
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS		FGFR2
#208050 ARTERIAL TORTUOSITY SYNDROME; ATS;;ARTERIAL TORTUOSITY		SLC2A10
208080 ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL RETARDATION,AND FACIAL ANOMALIES
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE		AMCN
#208400 ASPARTYLGLUCOSAMINURIA; AGU;;GLYCOSYLASPARAGINASE DEFICIENCY;;ASPARTYLGLUCOSAMINIDASE DEFICIENCY;;AGA DEFICIENCY;;GLYCOASPARAGINASE;;ASPARTYLGLYCOSAMINURIA		AGA
#208540 RENAL-HEPATIC-PANCREATIC DYSPLASIA; RHPD		NPHP3
AURAL ATRESIA, MULTIPLE CONGENITAL ANOMALIES, AND MENTAL RETARDATION
SECKEL SYNDROME 1		ATR
BIRD-HEADED DWARFISM, MONTREAL TYPE
BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES,GOITER, AND PRIMARY GONADAL INSUFFICIENCY
BLOOM SYNDROME		BLM
BORRONE DERMATOCARDIOSKELETAL SYNDROME
KYPHOMELIC DYSPLASIA
%211890 CAMPOMELIA, CUMMING TYPE;;CERVICAL LYMPHOCELE WITH BOWED LONG BONES;;CUMMING SYNDROME
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA
%211960 CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMALPALMAR CREASES;;TEL HASHOMER CAMPTODACTYLY SYNDROME
#212720 MARTSOLF SYNDROME;;CATARACT-MENTAL RETARDATION-HYPOGONADISM		RAB3GAP2
CEREBELLAR ATAXIA AND ECTODERMAL DYSPLASIA
%213980 CEREBROFACIOTHORACIC DYSPLASIA
#214100 ZELLWEGER SYNDROME; ZS;;CEREBROHEPATORENAL SYNDROME;;CHR SYNDROME;;ZWS		PEX1
#214800 CHARGE SYNDROME;;CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION,GENITAL AND EAR ANOMALIES;;HALL-HITTNER SYNDROME; HHS		SEMA3E ; CHD7
CHONDRODYSPLASIA, BLOMSTRAND TYPE		PTH1R
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1		PEX7
#215140 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA;;HEM SKELETAL DYSPLASIA;;GREENBERG DYSPLASIA;;CHONDRODYSTROPHY, HYDROPIC AND PRENATALLY LETHAL TYPE;;MOTH-EATEN SKELETAL DYSPLASIA		LBR
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA		COL2A1 ; COL11A2
CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL
#216360 COACH SYNDROME;;CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULARCOLOBOMA, AND HEPATIC FIBROSIS;;JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS		TMEM67 ; RPGRIP1L ; CC2D2A
CONTRACTURES, CONGENITAL, TORTICOLLIS, AND MALIGNANT HYPERTHERMIA
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY		SLC12A6
#218040 COSTELLO SYNDROME;;FACIOCUTANEOSKELETAL SYNDROME;;FCS SYNDROMEMYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED; CMEMS,INCLUDED		HRAS
CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM,AND AORTIC DILATATION
218350 CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE;;BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS; BLSS
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
CRANIOSYNOSTOSIS WITH FIBULAR APLASIA
BALLER-GEROLD SYNDROME		RECQL4
218649 CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG
#218700 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2;;THYROID DYSGENESIS;;THYROID AGENESIS;;THYROID HYPOPLASIA;;THYROID, ECTOPIC;;HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS;;HYPOTHYROIDISM, ATHYREOTIC;;ATHYREOTIC HYPOTHYROIDISM;;RESISTANCE TO THYROTROPIN; RTSH;;THYROTROPIN RESISTANCE		PAX8
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA		GNAS
PITUITARY ADENOMA, ACTH-SECRETING		AIP
#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
#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
220219 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, MACROCEPHALY, MYOPIA,AND BRACHYTELEPHALANGY
%220500 DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, AND MENTAL RETARDATIONSYNDROME;;DOOR SYNDROME;;DIGITORENOCEREBRAL SYNDROME;;DRC SYNDROME;;BRACHYDACTYLY DUE TO ABSENCE OF DISTAL PHALANGES;;ERONEN SYNDROME
#222448 DONNAI-BARROW SYNDROME;;FACIOOCULOACOUSTICORENAL SYNDROME;;DBS/FOAR SYNDROME;;DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM,MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA		LRP2
DIASTROPHIC DYSPLASIA		SLC26A2
DIHYDROPYRIMIDINASE		DPYS
%223200 DISORGANIZATION, MOUSE, HOMOLOG OF;;DS
DUBOWITZ SYNDROME
#223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC		DYM
%224300 DYSOSTEOSCLEROSIS
DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE		HSPG2
SCHOPF-SCHULZ-PASSARGE SYNDROME		WNT10A
CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME		PVRL1
ENDOCARDIAL FIBROELASTOSIS
EPILEPSY-TELANGIECTASIA
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
227280 FACIOCARDIORENAL SYNDROME;;EASTMAN-BIXLER SYNDROME
FACIODIGITOGENITAL SYNDROME, RECESSIVE
#228520 FIBROCHONDROGENESIS 1; FBCG1		COL11A1
#228600 HYALINE FIBROMATOSIS SYNDROME; HFS;;HYALINOSIS, SYSTEMIC		ANTXR2
FOUNTAIN SYNDROME
%229400 FRONTOFACIONASAL DYSPLASIA;;FFND;;FRONTOFACIONASAL DYSOSTOSIS
FRYNS SYNDROME
FUCOSIDOSIS		FUCA1
GM1-GANGLIOSIDOSIS, TYPE I		GLB1
GAPO SYNDROME
#231050 GELEOPHYSIC DYSPLASIA 1; GPHYSD1		ADAMTSL2
GERODERMA OSTEODYSPLASTICA		GORAB
GERMAN SYNDROME
ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE		ETFDH
MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY		ETFDH ; ETFB ; ETFA
GLYCOGEN STORAGE DISEASE IA		G6PC
GLYCOGEN STORAGE DISEASE IB		SLC37A4
#232400 GLYCOGEN STORAGE DISEASE III;;GSD III; GSD3;;FORBES DISEASE;;CORI DISEASE;;LIMIT DEXTRINOSIS;;AMYLO-1,6-GLUCOSIDASE DEFICIENCY;;AGL DEFICIENCY;;GLYCOGEN DEBRANCHER DEFICIENCY;;GDE DEFICIENCYGLYCOGEN STORAGE DISEASE IIIA, INCLUDED; GSD IIIA, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIB, INCLUDED; GSD IIIB, INCLUDED;;GLYCOGEN STORAGE DISEASE IIIC, INCLUDED; GSD IIIC, INCLUDED;;GLYCOGEN STORAGE DISEASE IIID, INCLUDED; GSD IIID, INCLUDED		AGL
233430 GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES
GORLIN-CHAUDHRY-MOSS SYNDROME
233810 GROWTH RETARDATION, SMALL AND PUFFY HANDS AND FEET, AND ECZEMA
%234100 HALLERMANN-STREIFF SYNDROME; HSS;;FRANCOIS DYSCEPHALIC SYNDROME		GJA1
HEARING LOSS, SENSORINEURAL, WITH ENAMEL HYPOPLASIA AND NAIL DEFECTS
HEMIHYPERPLASIA, ISOLATED
MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIALPOLYDACTYLY
#235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME;;LYMPHATIC DYSPLASIA, GENERALIZED		CCBE1
HIRSCHSPRUNG DISEASE WITH HYPOPLASTIC NAILS AND DYSMORPHIC FACIALFEATURES
HYALINOSIS, INFANTILE SYSTEMIC
UROFACIAL SYNDROME		HPSE2
%236795 3-@HYDROXYISOBUTYRIC ACIDURIA
#239300 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1;;MABRY SYNDROME		PIGV
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA		ABCC9
#241080 WOODHOUSE-SAKATI SYNDROME;;HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS,AND EXTRAPYRAMIDAL SYNDROME;;EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTALRETARDATION, AND ALOPECIA		DCAF17
BARTTER SYNDROME, ANTENATAL, TYPE 2		KCNJ1
HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS
HYPOSPADIAS-MENTAL RETARDATION SYNDROME
#242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1; ICF1;;IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES1, 9, AND 16;;CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID;;IMMUNODEFICIENCY SYNDROME, VARIABLE		DNMT3B
KAUFMAN OCULOCEREBROFACIAL SYNDROME
#245150 KEUTEL SYNDROME;;PULMONIC STENOSIS, BRACHYTELEPHALANGISM, AND CALCIFICATION OF CARTILAGES		MGP
KNIEST-LIKE DYSPLASIA, LETHAL
LAMBERT SYNDROME
#245600 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM,AND CONGENITAL HEART DEFECTS;;LARSEN SYNDROME, AUTOSOMAL RECESSIVE, FORMERLY		B3GAT3
LARSEN-LIKE SYNDROME, LETHAL TYPE
#246200 DONOHUE SYNDROME;;LEPRECHAUNISMINSULIN RECEPTOR, DEFECT IN, INCLUDED		INSR
LICHTENSTEIN SYNDROME
MACROCEPHALY
#248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA;;LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA;;CRANIOMANDIBULAR DERMATODYSOSTOSISMANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED		LMNA
#248390 TREACHER COLLINS SYNDROME 3; TCS3;;MANDIBULOFACIAL DYSOSTOSIS, TREACHER COLLINS TYPE, AUTOSOMAL RECESSIVE		POLR1C
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY
#248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA;;ALPHA-MANNOSIDOSIS;;LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY;;ALPHA-MANNOSIDASE B DEFICIENCY		MAN2B1
MANNOSIDOSIS, BETA A, LYSOSOMAL		MANBA
MARFANOID MENTAL RETARDATION SYNDROME, AUTOSOMAL
MCDONOUGH SYNDROME
MEGAEPIPHYSEAL DWARFISM
%249310 MEGALOCORNEA-MENTAL RETARDATION SYNDROME;;MMR SYNDROME;;NEUHAUSER SYNDROME
MENTAL RETARDATION SYNDROME, BELGIAN TYPE
MESOMELIC LIMB SHORTENING AND BOWING
METAPHYSEAL ACROSCYPHODYSPLASIA
BETA-HYDROXYISOBUTYRYL COA DEACYLASE, DEFICIENCY OF		HIBCH
#251450 DESBUQUOIS DYSPLASIA; DBQD;;DESBUQUOIS SYNDROME;;MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES ANDADVANCED CARPOTARSAL OSSIFICATIONDESBUQUOIS DYSPLASIA, KIM VARIANT, INCLUDED		CANT1
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS
%252100 MOHR SYNDROME;;OROFACIODIGITAL SYNDROME II; OFD2;;OFDS II;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE II
MONOSOMY 7 OF BONE MARROW
MUCOLIPIDOSIS II ALPHA/BETA		GNPTAB
#252600 MUCOLIPIDOSIS III ALPHA/BETA;;ML III ALPHA/BETA;;MUCOLIPIDOSIS IIIA; ML IIIA;;MUCOLIPIDOSIS III;;ML III;;PSEUDO-HURLER POLYDYSTROPHYMUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED		GNPTAB
#252605 MUCOLIPIDOSIS III GAMMA;;ML III GAMMA;;MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C;;MUCOLIPIDOSIS IIIC;;ML IIIC;;MUCOLIPIDOSIS III, IRANIAN VARIANT FORM;;MUCOLIPIDOSIS III, VARIANT FORM		GNPTG
#252650 MUCOLIPIDOSIS IV;;ML IV; ML4;;SIALOLIPIDOSIS		MCOLN1
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES
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
MORQUIO SYNDROME A		GALNS
MORQUIO SYNDROME B		GLB1
MUCOPOLYSACCHARIDOSIS TYPE VI		ARSB
#253220 MUCOPOLYSACCHARIDOSIS TYPE VII;;MPS VII; MPS7;;SLY SYNDROME;;BETA-GLUCURONIDASE DEFICIENCY;;GUSB DEFICIENCY		GUSB
MULIBREY NANISM		TRIM37
#253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3; MDDGA3;;WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		POMGNT1
#253290 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS;;PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE		CHRNA1 ; CHRNG ; CHRND
253320 MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPICHYPOGONADISM;;CHUDLEY SYNDROME
ULLRICH CONGENITAL MUSCULAR DYSTROPHY		COL6A1 ; COL6A2 ; COL6A3
#255200 MYOPATHY, CENTRONUCLEAR, 2; CNM2;;MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE;;MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE		BIN1
#255310 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD;;FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL; CFTDM		SEPN1 ; ACTA1 ; TPM3
SCHWARTZ-JAMPEL SYNDROME, TYPE 1		HSPG2
#256050 ATELOSTEOGENESIS, TYPE II; AOII;;AO2;;NEONATAL OSSEOUS DYSPLASIA IDE LA CHAPELLE DYSPLASIA, INCLUDED; DLCD, INCLUDED		SLC26A2
NEPHROSIALIDOSIS
NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY		CTSA
NEURAMINIDASE DEFICIENCY		NEU1
256690 NEUROFACIODIGITORENAL SYNDROME;;NFDR SYNDROME
#257300 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1;;MVA SYNDROME		BUB1B
OCULORENOCEREBELLAR SYNDROME
OMODYSPLASIA, GENERALIZED FORM		GPC6
OROFACIODIGITAL SYNDROME III
OSSIFIED EAR CARTILAGES WITH MENTAL DEFICIENCY, MUSCLE WASTING, AND
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE		HPGD
FAMILIAL OSTEODYSPLASIA, ANDERSON TYPE
OSTEOGENESIS IMPERFECTA, TYPE III		COL1A2 ; COL1A1
TORG-WINCHESTER SYNDROME		MMP2
OSTEOLYSIS SYNDROME, RECESSIVE
OSTEOPENIA AND SPARSE HAIR
#259775 RAINE SYNDROME; RNS;;OSTEOSCLEROTIC BONE DYSPLASIA, LETHAL		FAM20C
PARANA HARD-SKIN SYNDROME
PEHO SYNDROME
#260600 LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3		AIMP1
#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
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATICABNORMALITIES		INSR
GROWTH HORMONE INSENSITIVITY SYNDROME		GHR
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE		PKHD1
%263630 POLYSYNDACTYLY WITH CARDIAC MALFORMATION;;BONNEAU SYNDROME
#263750 POSTAXIAL ACROFACIAL DYSOSTOSIS; POADS;;MILLER SYNDROME;;GENEE-WIEDEMANN SYNDROME		DHODH
%264090 PROGEROID SYNDROME, NEONATAL;;WIEDEMANN-RAUTENSTRAUCH SYNDROME
PSEUDODIASTROPHIC DYSPLASIA
264480 PSEUDOTRISOMY 13 SYNDROME;;HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT		CHRNG
%265300 LYMPHANGIECTASIA, PULMONARY, CONGENITAL; CPL;;LYMPHANGIOMATOSIS, PULMONARY;;PULMONARY CYSTIC LYMPHANGIECTASIS
PYCNODYSOSTOSIS		CTSK
RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATIONAND HYPOTONIA
RAPADILINO SYNDROME		RECQL4
REFSUM DISEASE, INFANTILE FORM		PEX12
#267000 PERLMAN SYNDROME; PRLMNS;;RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM;;NEPHROBLASTOMATOSIS, FETAL ASCITES, MACROSOMIA, AND WILMS TUMOR		DIS3L2
#267430 RENAL TUBULAR DYSGENESIS; RTD;;PRIMITIVE RENAL TUBULE SYNDROMERENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED		AGTR1 ; AGT ; ACE ; REN
RETINITIS PIGMENTOSA, DEAFNESS, MENTAL RETARDATION, AND HYPOGONADISM
#268300 ROBERTS SYNDROME; RBS;;LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE		ESCO2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE		ROR2
RODRIGUES BLINDNESS
268650 RUDIGER SYNDROME
SANDHOFF DISEASE		HEXB
%268850 RICHIERI-COSTA/GUION-ALMEIDA SYNDROME;;SHORT STATURE, MENTAL RETARDATION, EYE ANOMALIES, AND CLEFT LIP/PALATE;;SAO PAULO MCA/MR SYNDROME
#269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME;;SGS		SETBP1
SCHNECKENBECKEN DYSPLASIA		SLC35D1
SCLEROSTEOSIS		SOST
269880 SHORT SYNDROME;;SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGERANOMALY, AND TEETHING DELAY;;LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY, AND SHORT STATURE
INFANTILE SIALIC ACID STORAGE DISORDER		SLC17A5
#269921 SIALURIA;;SIALURIA, FRENCH TYPE		GNE
INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO		IGF1R
SONODA SYNDROME
%270710 FITZSIMMONS-GUILBERT SYNDROME;;SPASTIC PARAPLEGIA ASSOCIATED WITH BRACHYDACTYLY TYPE E;;FITZSIMMONS SYNDROME
%270750 SPASTIC PARAPLEGIA 23; SPG23;;SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES;;SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES;;LISON SYNDROME		SPG23
271270 SPINOCEREBELLAR ATAXIA WITH DYSMORPHISM
SPINOCEREBELLAR DEGENERATION AND CORNEAL DYSTROPHY
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
%271640 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1; SEMDJL1;;SEMDJL
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE		DDR2
SPONDYLOPERIPHERAL DYSPLASIA		COL2A1
271960 SUBAORTIC STENOSIS--SHORT STATURE SYNDROME;;ONAT SYNDROME
#272200 MULTIPLE SULFATASE DEFICIENCY; MSD;;MUCOSULFATIDOSIS;;SULFATIDOSIS, JUVENILE, AUSTIN TYPE		SUMF1
SUMMITT SYNDROME
#272430 COLD-INDUCED SWEATING SYNDROME 1; CISS1;;CRISPONI SYNDROME;;SOHAR-CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH		CRLF1
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME		FLNB
TEETH, NONERUPTION OF, WITH MAXILLARY HYPOPLASIA AND GENU VALGUM
THORACOMELIC DYSPLASIA
#273750 THREE M SYNDROME 1; 3M1;;3@M SYNDROME;;LE MERRER SYNDROME;;DOLICHOSPONDYLIC DYSPLASIA;;GLOOMY FACE SYNDROMEYAKUT SHORT STATURE SYNDROME, INCLUDED		CUL7
#274000 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR;;TAR SYNDROME;;CHROMOSOME 1Q21.1 DELETION SYNDROME, 200-KB		RBM8A
THUMB AGENESIS, SHORT STATURE, AND IMMUNODEFICIENCY
THYMIC-RENAL-ANAL-LUNG DYSPLASIA
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4		TSHB
#276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY;;LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME; LPHAS;;AL-AWADI/RAAS-ROTHSCHILD SYNDROME; AARRS;;SCHINZEL PHOCOMELIA SYNDROME		WNT7A
VASCULAR HYALINOSIS
#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
#277590 WEAVER SYNDROME 1; WVS1;;WEAVER-SMITH SYNDROME; WSSWEAVER-LIKE SYNDROME, INCLUDED		NSD1
#277700 WERNER SYNDROME; WRN		WRN
%277720 WHISTLING FACE SYNDROME, RECESSIVE FORM
#278250 WRINKLY SKIN SYNDROME; WSS		ATP6V0A2
#300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA;;ACC WITH ABNORMAL GENITALIA;;PROUD SYNDROME		ARX
MENTAL RETARDATION, X-LINKED 14		MRX14
300064 MENTAL RETARDATION, X-LINKED, WITH CRANIOFACIAL DYSMORPHISM;;MENTAL RETARDATION, X-LINKED, HYDE-FORSTER TYPE
#300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2;;OCULOFACIOCARDIODENTAL SYNDROME;;OFCD SYNDROME;;MICROPHTHALMIA, CATARACTS, RADICULOMEGALY, AND SEPTAL HEART DEFECTS;;ANOP2, FORMERLY;;MAA2, FORMERLY		BCOR
ALPORT SYNDROME - INTELLECTUAL DEFICIT - MIDFACE HYPOPLASIA - ELLIPTOCYTOSIS
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2		OFD1
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH MENTAL DETERIORATION
MENTAL RETARDATION, X-LINKED, SYNDROMIC 11		MRXS11
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE		SLC9A6
#300244 TERMINAL OSSEOUS DYSPLASIA; TOD;;TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS; TODPD;;ODPD;;OSSEOUS DYSPLASIA, DIGITAL, WITH FACIAL PIGMENTARY DEFECTS AND MULTIPLEFRENULA; ODPF;;ODPF SYNDROME		FLNA
LUBS X-LINKED MENTAL RETARDATION SYNDROME		MECP2
%300261 ARMFIELD X-LINKED MENTAL RETARDATION SYNDROME; MRXSA;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
INTELLECTUAL DEFICIT, X-LINKED, SIDERIUS TYPE		PHF8
MENTAL RETARDATION, X-LINKED 72		RAB39B ; MRX72
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
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
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE
OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS		AMER1
ATKIN-FLAITZ SYNDROME
#300486 MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVEFACIAL APPEARANCE;;MENTAL RETARDATION, X-LINKED 60, FORMERLY; MRX60, FORMERLY		OPHN1
#300519 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; MRXSMP;;MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME		RAB40AL
#300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS;;ALLAN-HERNDON SYNDROME;;MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY;;TRIIODOTHYRONINE RESISTANCE;;T3 RESISTANCE;;MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA;;MENTAL RETARDATION AND MUSCULAR ATROPHY		SLC16A2
#300577 MENTAL RETARDATION, X-LINKED 91; MRX91		ZDHHC15
CLARK-BARAITSER SYNDROME
%300612 BROOKS-WISNIEWSKI-BROWN SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE;MRXSBWB
FRAGILE X MENTAL RETARDATION SYNDROME		FMR1
FRIED SYNDROME		AP1S2
#300659 MENTAL RETARDATION, X-LINKED 93; MRX93;;MENTAL RETARDATION, X-LINKED, WITH MACROCEPHALY		BRWD3
%300660 LEUKOENCEPHALOPATHY WITH METAPHYSEAL CHONDRODYSPLASIA; LKMCD
#300676 MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14		UPF3B
%300712 CRANIOFACIOSKELETAL SYNDROME
#300749 MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA;MICPCH;;MICPCH SYNDROME;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, NAJM TYPE; MRXSNA		CASK
#300831 CK SYNDROME;;MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICALMALFORMATION		NSDHL
#300860 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN;;MENTAL RETARDATION, X-LINKED, SYNDROMIC, 30; MRXS30		UBE2A
#300868 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2		PIGA
%300881 BARATELA-SCOTT SYNDROME
#300887 APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES; APLCC		COX7B
#301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX;;ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE;;ATR-X SYNDROME;;ATR, NONDELETION TYPE		ATRX
FABRY DISEASE		GLA
BORJESON-FORSSMAN-LEHMANN SYNDROME		PHF6
BRANCHIAL ARCH SYNDROME, X-LINKED
#302060 BARTH SYNDROME; BTHS;;CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;;3-@METHYLGLUTACONIC ACIDURIA, TYPE II; MGCA2;;MGA, TYPE II; MGA2		TAZ
#302350 NANCE-HORAN SYNDROME; NHS;;CATARACT-DENTAL SYNDROME;;CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH;;MESIODENS-CATARACT SYNDROME		NHS
CHARGE-LIKE SYNDROME, X-LINKED
#302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2;;CDPXD; CPXD;;CONRADI-HUNERMANN SYNDROME;;HAPPLE SYNDROME;;CONRADI-HUNERMANN-HAPPLE SYNDROME		EBP
#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
CRANIOFRONTONASAL SYNDROME		EFNB1
#304120 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2;;OPD II SYNDROME;;OPD SYNDROME 2;;CRANIOORODIGITAL SYNDROME;;FACIOPALATOOSSEOUS SYNDROME; FPO		FLNA
#304150 OCCIPITAL HORN SYNDROME; OHS;;CUTIS LAXA, X-LINKED, FORMERLY;;EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY;;EDS IX, FORMERLY;;EDS9, FORMERLY		ATP7A
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED
FACIOGENITAL DYSPLASIA		FGD1
#305600 FOCAL DERMAL HYPOPLASIA; FDH;;FODH; DHOF;;GOLTZ SYNDROME;;GOLTZ-GORLIN SYNDROME		PORCN
FRONTOMETAPHYSEAL DYSPLASIA		FLNA
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS		L1CAM
#307030 HYPERGLYCEROLEMIA;;GLYCEROL KINASE DEFICIENCY;;GK DEFICIENCY; GKD;;GK1 DEFICIENCY		GK
#309000 LOWE OCULOCEREBRORENAL SYNDROME; OCRL;;OCRL1;;LOWE SYNDROME;;PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY		OCRL
MELNICK-NEEDLES SYNDROME		FLNA
#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
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
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME		MCS
#309900 MUCOPOLYSACCHARIDOSIS TYPE II;;MPS II; MPS2;;HUNTER SYNDROME;;IDURONATE 2-SULFATASE DEFICIENCY;;IDS DEFICIENCY;;SULFOIDURONATE SULFATASE DEFICIENCY;;SIDS DEFICIENCY		IDS
#310400 MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX;;MYOTUBULAR MYOPATHY, X-LINKED; MTMX; XLMTM;;MYOTUBULAR MYOPATHY 1; MTM1		MTM1
#311200 OROFACIODIGITAL SYNDROME I; OFD1;;ORAL-FACIAL-DIGITAL SYNDROME, TYPE I;;OFDS I;;PAPILLON-LEAGE AND PSAUME SYNDROME		OFD1
#311300 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1;;OPD I SYNDROME;;OPD SYNDROME 1OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED;;FRONTOOTOPALATODIGITAL OSTEODYSPLASIA, INCLUDED		FLNA
311450 PALLISTER W SYNDROME;;W SYNDROME
MULTIPLE PTERYGIUM SYNDROME, X-LINKED
#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
RUSSELL-SILVER SYNDROME, X-LINKED
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1		GPC3
SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA		TKCR
WILDERVANCK SYNDROME
600122 MALE PSEUDOHERMAPHRODITISM/MENTAL RETARDATION SYNDROME, VERLOES TYPE;;VERLOES SYNDROME
%600268 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS;;OCULOECTODERMAL SYNDROME; OES
FRYNS MACROCEPHALY
%600325 AMINOPTERIN SYNDROME SINE AMINOPTERIN; ASSA;;PSEUDOAMINOPTERIN SYNDROME
CODAS SYNDROME
#600383 MESOMELIA-SYNOSTOSES SYNDROME;;CHROMOSOME 8Q13 DELETION SYNDROME;;MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFERTYPE;;MESOMELIC DYSPLASIA, SYNDROMIC
%600399 PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS
#600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR;;ALBRIGHT HEREDITARY OSTEODYSTROPHY-LIKE SYNDROMECHROMOSOME 2Q37 DELETION SYNDROME, INCLUDED		HDAC4 ; BDMR
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY
VELOFACIOSKELETAL SYNDROME
600775 LAMBDOID SYNOSTOSIS;;CRANIOSYNOSTOSIS, LAMBDOIDAL
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY
AGONADISM, XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS
#600920 VAN DEN ENDE-GUPTA SYNDROME; VDEGS;;MARDEN-WALKER-LIKE SYNDROME WITHOUT PSYCHOMOTOR RETARDATION;;BLEPHAROPHIMOSIS, ARACHNODACTYLY, AND CONGENITAL CONTRACTURES		SCARF2
ACHONDROGENESIS, TYPE IB		SLC26A2
MULLERIAN DUCT APLASIA, UNILATERAL RENAL AGENESIS, AND CERVICOTHORACICSOMITE ANOMALIES
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION
HARROD SYNDROME
CLEFT LIP/PALATE WITH CHARACTERISTIC FACIES, INTESTINAL MALROTATION,AND LETHAL CONGENITAL HEART DISEASE
NEUROFIBROMATOSIS-NOONAN SYNDROME		NF1
601347 MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY
SHORT STATURE SYNDROME, BRUSSELS TYPE
GROWTH RETARDATION, DEAFNESS, FEMORAL EPIPHYSEAL DYSPLASIA, AND LACRIMALDUCT OBSTRUCTION
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
HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS
#601378 CRISPONI SYNDROME;;MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY,HYPERTHERMIA, AND SUDDEN DEATH
ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS
RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE
DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF FINGERS
ECTOPIA LENTIS, SPONTANEOUS FILTERING BLEBS, AND CRANIOFACIAL DYSMORPHISM
#601559 STUVE-WIEDEMANN SYNDROME;;STWS; SWS;;SCHWARTZ-JAMPEL SYNDROME, TYPE 2; SJS2;;SCHWARTZ-JAMPEL SYNDROME, NEONATAL;;STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME		LIFR
DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
ARTHROGRYPOSIS, DISTAL, TYPE 2B		MYH3 ; TNNI2 ; TPM2 ; TNNT3
ARTHROGRYPOSIS AND ECTODERMAL DYSPLASIA
CRANIOFACIAL MALFORMATIONS, ASYMMETRIC, WITH POLYSYNDACTYLY AND ABNORMALSKIN AND GUT DEVELOPMENT
#601776 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE;;ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME;;EHLERS-DANLOS SYNDROME, TYPE VIB, FORMERLY; EDS6B, FORMERLY;;ADDUCTED THUMB-CLUBFOOT SYNDROME; ATCS;;DUNDAR SYNDROME;;ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS		CHST14
#601803 PALLISTER-KILLIAN SYNDROME; PKS;;TETRASOMY 12P, MOSAIC;;ISOCHROMOSOME 12P SYNDROMEHEXASOMY 12P, MOSAIC, INCLUDED
#601808 CHROMOSOME 18Q DELETION SYNDROME;;CHROMOSOME 18Q- SYNDROME;;18Q- SYNDROME
PREMATURE AGING SYNDROME, OKAMOTO TYPE
601829 ACROFACIAL DYSOSTOSIS, PALAGONIA TYPE
601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA;;GOMEZ-LOPEZ-HERNANDEZ SYNDROME;;GLH SYNDROME;;CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA
%601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES;;IRONS-BIANCHI SYNDROME;;LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES
601976 OTOFACIOOSSEOUS-GONADAL SYNDROME
%602342 PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY;;PIERPONT SYNDROME
OSTEOCRANIOSTENOSIS
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETALABNORMALITIES
#602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3;;AXENFELD-RIEGER ANOMALY WITH OR WITHOUT CARDIAC DEFECTS AND/OR SENSORINEURALHEARING LOSS;;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS;;ANTERIOR CHAMBER CLEAVAGE SYNDROME;;RIEGER SYNDROME, TYPE 3AXENFELD ANOMALY, INCLUDED;;RIEGER ANOMALY, INCLUDED;;AXENFELD-RIEGER ANOMALY, INCLUDED		FOXC1
AURICULOCONDYLAR SYNDROME		GNAI3
#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
#602535 MARSHALL-SMITH SYNDROME; MRSHSS		NFIX
602557 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE;;SEMD, SHOHAT TYPE
CRANIOMICROMELIC SYNDROME
CAMPTODACTYLY - JOINT CONTRACTURES - FACIAL SKELETAL DEFECTS
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
MUENKE SYNDROME		FGFR3
CDAGS SYNDROME
ARRHINIA - CHOANAL ATRESIA - MICROPHTHALMIA
HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARINGLOSS
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS		KIF22
#604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY;;CCFDN;;CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY		CTDP1
#604173 POIKILODERMA WITH NEUTROPENIA; PN;;POIKILODERMA WITH NEUTROPENIA, CLERICUZIO-TYPE		USB1
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3		TP63
BLEPHAROPHIMOSIS WITH FACIAL AND GENITAL ANOMALIES AND MENTAL RETARDATION
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL		MPL
STICKLER SYNDROME, TYPE II		COL11A1
OKAMOTO SYNDROME
#605039 BOHRING-OPITZ SYNDROME; BOPS;;C-LIKE SYNDROME;;OPITZ TRIGONOCEPHALY-LIKE SYNDROME;;BOHRING SYNDROME		ASXL1
%605627 CEREBROOCULONASAL SYNDROME
#606170 GENITOPATELLAR SYNDROME; GTPTS;;ABSENT PATELLAE, SCROTAL HYPOPLASIA, RENAL ANOMALIES, FACIAL DYSMORPHISM,AND MENTAL RETARDATION		KAT6B
#606232 CHROMOSOME 22Q13.3 DELETION SYNDROME;;TELOMERIC 22Q13 MONOSOMY SYNDROME;;PHELAN-MCDERMID SYNDROME		SHANK3
CREE MENTAL RETARDATION SYNDROME
HURLER SYNDROME		IDUA
HURLER-SCHEIE SYNDROME		IDUA
SCHEIE SYNDROME		IDUA
#607323 DUANE-RADIAL RAY SYNDROME; DRRS;;OKIHIRO SYNDROME;;DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS;;DR SYNDROME;;ACRORENOOCULAR SYNDROME		SALL4
PATENT ARTERIAL DUCT
#607812 CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD;;BOYADJIEV-JABS SYNDROME		SEC23A
#607872 CHROMOSOME 1P36 DELETION SYNDROME;;MONOSOMY 1P36 SYNDROME
#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
HERMANSKY-PUDLAK SYNDROME 2		AP3B1
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT
#608363 CHROMOSOME 22Q11.2 DUPLICATION SYNDROME;;CHROMOSOME 22Q11.2 MICRODUPLICATION SYNDROME
%608545 LARSEN-LIKE SYNDROME;;LRSL
608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY
SHORT STATURE - INTELLECTUAL DEFICIT - EYE ANOMALIES - CLEFT LIP/PALATE
#608612 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB;;LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA		ZMPSTE24
608624 MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE
#608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTORDEFICIENCY;;MYASTHENIC SYNDROME, CONGENITAL, POSTSYNAPTIC, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY;;MYASTHENIC SYNDROME, CONGENITAL, TYPE ID; CMS1D;;CMS IDMYASTHENIC SYNDROME, CONGENITAL, WITH FACIAL DYSMORPHISM, ASSOCIATEDWITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INCLUDED;;MYASTHENIC SYNDROME, CONGENITAL, IE, INCLUDED; CMS1E, INCLUDED;;CMS IE, INCLUDED		CHRNE ; RAPSN ; CHRNB1 ; MUSK
MARFANOID HABITUS WITH SITUS INVERSUS
#609029 EMANUEL SYNDROME;;SUPERNUMERARY DER(22)T(11;22) SYNDROME
609037 MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE
NEONATAL DIABETES MELLITUS		PTF1A
LOEYS-DIETZ SYNDROME, TYPE 1A LOEYS-DIETZ AORTIC ANEURYSM SYNDROME		TGFBR1
KANZAKI DISEASE		NAGA
NEMALINE MYOPATHY 1		TPM3
CHROMOSOME 3Q29 DELETION SYNDROME
EYE DEFECTS - ARACHNODACTYLY - CARDIOPATHY
#609528 CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMASYNDROME;;CEDNIK SYNDROME		SNAP29
FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE		FGFR2
#609625 CHROMOSOME 10Q26 DELETION SYNDROME;;TERMINAL CHROMOSOME 10Q26 DELETION SYNDROME
#609637 HOLOPROSENCEPHALY 5; HPE5		ZIC2
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES
#610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B		TGFBR2
#610185 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2; CAMRQ2;;CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDALLOCOMOTION 2		WDR81
#610205 ALAGILLE SYNDROME 2; ALGS2		NOTCH2
#610253 KLEEFSTRA SYNDROME;;CHROMOSOME 9Q34.3 DELETION SYNDROME;;9Q- SYNDROME;;9Q SUBTELOMERIC DELETION SYNDROME		EHMT1
MEVALONIC ACIDURIAMEVALONATE KINASE DEFICIENCY, INCLUDED		MVK
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
#610443 KOOLEN-DE VRIES SYNDROME; KDVS;;CHROMOSOME 17Q21.31 DELETION SYNDROME;;MICRODELETION 17Q21.31 SYNDROME		KANSL1
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2		PDE11A
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1		PRKAR1A
#610498 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2;;CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS		MRPS16
#610536 MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA;;MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY; MFDM;;GROWTH AND MENTAL RETARDATION, MANDIBULOFACIAL DYSOSTOSIS, MICROCEPHALY,AND CLEFT PALATE		EFTUD2
CHROMOSOME 16P13.3 DELETION SYNDROME
610680 HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS
#610682 OSTEOGENESIS IMPERFECTA, TYPE VII;;OI, TYPE VII;;OI7;;OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY; OI2B, FORMERLY		CRTAP
#610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA;;DEAFNESS, CONGENITAL, WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA;;DEAFNESS WITH LAMM		FGF3
IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN		LAMTOR2
HOLOPROSENCEPHALY 7		PTCH1
HOLOPROSENCEPHALY 9		GLI2
#610883 POTOCKI-LUPSKI SYNDROME; PTLS;;CHROMOSOME 17P11.2 DUPLICATION SYNDROME
#610896 BRANCHIOOTORENAL SYNDROME 2; BOR2		SIX5
OSTEOGENESIS IMPERFECTA, TYPE VIII		LEPRE1
#610954 PITT-HOPKINS SYNDROME; PTHS;;ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION;;MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION		TCF4
#611087 POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSE;;PMSE SYNDROME		STRADA
#611091 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5		MRT5 ; NSUN2
#611431 LEGIUS SYNDROME;;NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME; NFLS		SPRED1
#611553 NOONAN SYNDROME 5; NS5		RAF1
SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND DISTINCTIVE SPEECH
CHROMOSOME 22Q11.2 DELETION SYNDROME, DISTAL
16P11.2 MICRODELETION SYNDROME
%611929 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III
#611936 CHROMOSOME 3Q29 DUPLICATION SYNDROME;;MICRODUPLICATION 3Q29 SYNDROME
#611943 RIDDLE SYNDROME;;RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNINGDIFFICULTIES		RNF168
HUNTER-MACDONALD SYNDROME
CHROMOSOME 15Q13.3 MICRODELETION SYNDROME
CROUZON SYNDROME - ACANTHOSIS NIGRICANS		FGFR3
#612313 CHROMOSOME 2Q32-Q33 DELETION SYNDROME
#612337 CHROMOSOME 1Q43-Q44 DELETION SYNDROME;;CHROMOSOME 1QTER DELETION SYNDROME
#612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS;;LYSYL HYDROXYLASE 3 DEFICIENCY;;LH3 DEFICIENCY		PLOD3
#612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C;;PHP IC		GNAS
#612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP;;ALBRIGHT HEREDITARY OSTEODYSTROPHY WITHOUT MULTIPLE HORMONE RESISTANCE		GNAS
#612530 CHROMOSOME 1Q41-Q42 DELETION SYNDROME;;HOLOPROSENCEPHALY 10, INCLUDED; HPE10, INCLUDED
MYOPATHY, CONGENITAL, COMPTON-NORTH		CNTN1
#612582 CHROMOSOME 6PTER-P24 DELETION SYNDROME
#612626 CHROMOSOME 15Q26-QTER DELETION SYNDROME;;DRAYER SYNDROME
#612651 ENDOCRINE-CEREBROOSTEODYSPLASIA; ECO		ICK
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE		ACAN
6Q25 MICRODELETION SYNDROME
612916 ZECHI-CEIDE SYNDROME;;OCCIPITAL ATRETIC CEPHALOCELE, UNUSUAL FACIES, AND LARGE FEET
612917 GIACHETI SYNDROME;;MARFANOID HABITUS AND SPECIFIC LANGUAGE AND LEARNING DISABILITIES
#612918 CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMALNEVI;;CLOVE SYNDROME;;CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMALNEVI, AND SKELETAL/SPINAL ABNORMALITIES;;CLOVES SYNDROME		PIK3CA
#612921 THREE M SYNDROME 2; 3M2;;3@M SYNDROME 2		OBSL1
#612938 GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLYDEATH; GDFD		FTO
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B		PYCR1
#612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY		RNASET2
#613026 CHROMOSOME 19Q13.11 DELETION SYNDROME
#613038 PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1		POU1F1
#613075 MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS;;MACS SYNDROME;;TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS		RIN2
CLAPO SYNDROME
#613177 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C;;CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES;;URBAN-RIFKIN-DAVIS SYNDROME; URDS		LTBP4
#613355 CHROMOSOME 17Q23.1-Q23.2 DELETION SYNDROME
#613398 WARSAW BREAKAGE SYNDROME; WABS		DDX11
#613406 CHROMOSOME 15Q24 DELETION SYNDROMECHROMOSOME 15Q24 DUPLICATION SYNDROME, INCLUDED
#613457 CHROMOSOME 14Q11-Q22 DELETION SYNDROME
#613458 CHROMOSOME 16P13.3 DUPLICATION SYNDROME
#613489 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ; CDG2J;;CDG IIJ; CDGIIJ		COG4
17Q21.31 MICRODUPLICATION SYNDROME
#613604 CHROMOSOME 16P12.2-P11.2 DELETION SYNDROME, 7.1- TO 8.7-MB
#613675 CHROMOSOME 17Q11.2 DELETION SYNDROME, 1.4-MB;;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;;NF1 MICRODELETION SYNDROMENF1 MICRODUPLICATION SYNDROME, INCLUDED
#613735 CHROMOSOME 1P32-P31 DELETION SYNDROME
#613744 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 4, FORMERLY; CPSQ4, FORMERLY		AP4E1
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY		AHCY
#613792 CHROMOSOME 3PTER-P25 DELETION SYNDROME;;3P- SYNDROME
#613803 MEIER-GORLIN SYNDROME 3; MGORS3		ORC6
#613805 MEIER-GORLIN SYNDROME 5; MGORS5		CDC6
#613848 OSTEOGENESIS IMPERFECTA, TYPE X;;OI, TYPE X; OI10		SERPINH1
#613849 OSTEOGENESIS IMPERFECTA, TYPE XII; OI12;;OI, TYPE XII		SP7
#614008 NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS;;PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS; PSCOO		BANF1
#614067 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52;;CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 6, FORMERLY; CPSQ6, FORMERLY		AP4S1
#614069 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2; ICF2		ZBTB24
#614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1; MCAHS1		PIGN
#614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2; MVA2		CEP57
#614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATIONSYNDROME; CFSMR;;TMCO1 DEFECT SYNDROME		TMCO1
#614202 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15		MAN1B1
#614205 THREE M SYNDROME 3; 3M3;;3@M SYNDROME 3		CCDC8
#614230 CHROMOSOME 8Q21.11 DELETION SYNDROME
TETRASOMY 18P
#614424 JOUBERT SYNDROME 14; JBTS14		TMEM237
#614524 FIBROCHONDROGENESIS 2; FBCG2		COL11A2
#614526 CHROMOSOME 17Q12 DUPLICATION SYNDROME
#614527 CHROMOSOME 17Q12 DELETION SYNDROME
#614592 BENT BONE DYSPLASIA SYNDROME; BBDS		FGFR2
#614613 ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2		PDE4D
#614669 AURICULOCONDYLAR SYNDROME 2; ARCND2		PLCB4
#614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK; CDG2K;;CDG IIK; CDGIIK		TMEM165
#614756 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR		CAMTA1
#614800 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH		NBAS
#614813 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS;SOFT;;SOFT SYNDROME		POC1A
#614856 OSTEOGENESIS IMPERFECTA, TYPE XIII; OI13;;OI, TYPE XIII		BMP1
#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
#615031 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49		TECPR2
#615065 ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D		ECEL1
#615139 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS		POLE
48,XXYY SYNDROME
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME		CEP57 ; BUB1B
ARACHNODACTYLY - INTELLECTUAL DEFICIT - DYSMORPHISM
ARTHROGRYPOSIS - EPILEPTIC SEIZURES - MIGRATIONAL BRAIN DISORDER
ARTHROGRYPOSIS WITH OCULOMOTOR LIMITATION AND ELECTRORETINAL ANOMALIES		ECEL1
INTELLECTUAL DEFICIT - ATHETOSIS- MICROPHTHALMIA
BLEPHAROPHIMOSIS - RADIOULNAR SYNOSTOSIS
CARNEY COMPLEX		PRKAR1A
CATARACT - DEAFNESS - HYPOGONADISM
CAMPOMELIC DYSPLASIA		SOX9
RING CHROMOSOME 1
CLEIDOCRANIAL DYSPLASIA		RUNX2
COFFIN-SIRIS SYNDROME		ARID1B ; ARID1A ; SMARCB1 ; SMARCA4
SHORT RIB-POLYDACTYLY SYNDROME
CRANIODIAPHYSEAL DYSPLASIA		SOST
CRANIOSYNOSTOSIS - DYSMORPHISM - BRACHYDACTYLY
KNOBLOCH SYNDROME		COL18A1 ; ADAMTS18
DISTAL MONOSOMY 9P
DENNIS-COHEN SYNDROME
NON-DISTAL TRISOMY 12P
DISTAL TRISOMY 15Q
DISTAL TRISOMY 18Q
6Q16 DELETION SYNDROME		SIM1
CRANIOSYNOSTOSIS - HYDROCEPHALUS - CHIARI I MALFORMATION - RADIOULNAR SYNOSTOSIS
TRISOMY 4P
TRISOMY 5P
CARTILAGE-HAIR HYPOPLASIA		RMRP
NON-RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
DYSMORPHISM - CLEFT PALATE - LOOSE SKIN
TRANSIENT CONGENITAL HYPOTHYROIDISM
FRONTO-FACIO-NASAL DYSOSTOSIS
CRANIOFACIOCERVICAL OSTEOGLYPHIC DYSPLASIA
EPIPHYSEAL DYSPLASIA - HEARING LOSS - DYSMORPHISM
AXIAL MESODERMAL DYSPLASIA SPECTRUM
MUSCULAR DYSTROPHY - WHITE MATTER SPONGIOSIS
ECTOPIA LENTIS SYNDROME		FBN1 ; ADAMTSL4
FETAL TRIMETHADIONE SYNDROME
FETAL ALCOHOL SYNDROME
COARSE FACE - HYPOTONIA - CONSTIPATION
CLEFT PALATE - SHORT STATURE - VERTEBRAL ANOMALIES
FIBROCHONDROGENESIS		COL11A2 ; COL11A1
PROGRESSIVE NON-INFECTIOUS ANTERIOR VERTEBRAL FUSION
CUTIS LAXA
HERNANDEZ-AGUIRRE NEGRETE SYNDROME
CRANIOSYNOSTOSIS, HERRMANN-OPITZ TYPE
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
HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION		HESX1 ; POU1F1 ; LHX4 ; LHX3 ; PROP1
ICF SYNDROME		ZBTB24 ; DNMT3B
DYSMORPHISM - SHORT STATURE - DEAFNESS - DISORDER OF SEX DEVELOPMENT
2Q23.1 MICRODELETION SYNDROME		MBD5
JOUBERT SYNDROME WITH OCULORENAL DEFECT		ZNF423 ; TMEM216 ; TMEM237 ; CC2D2A ; CEP290 ; TMEM138
DUANE SYNDROME		CPA6 ; CHN1
KENNY-CAFFEY SYNDROME
ISOLATED KLIPPEL-FEIL SYNDROME		MEOX1 ; GDF3 ; GDF6
ANGIO-OSTEOHYPERTROPHIC SYNDROME
MUSCULAR PSEUDOHYPERTROPHY - HYPOTHYROIDISM
KOZLOWSKI-BROWN-HARDWICK SYNDROME
DYGGVE-MELCHIOR-CLAUSEN DISEASE		DYM
MACROCEPHALY - SHORT STATURE - PARAPLEGIA
AUTOSOMAL RECESSIVE STICKLER SYNDROME		COL9A2 ; COL9A1
MULTIPLE EPIPHYSEAL DYSPLASIA
2Q31.1 MICRODELETION SYNDROME
MIDAS SYNDROMEMICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME		HCCS ; COX7B
SHOULDER AND GIRDLE DEFECTS - FAMILIAL INTELLECTUAL DEFICIT
15Q14 MICRODELETION SYNDROME
16Q24.3 MICRODELETION SYNDROME		ANKRD11
TRISOMY 17P
DISTAL 22Q11.2 MICRODUPLICATION SYNDROME
3M SYNDROME		OBSL1 ; CCDC8 ; CUL7
GELEOPHYSIC DYSPLASIA		FBN1 ; ADAMTSL2
14Q22Q23 MICRODELETION SYNDROME		BMP4 ; SIX6
THANATOPHORIC DYSPLASIA
NEUROECTODERMAL-ENDOCRINE SYNDROME
EPIDERMAL NEVUS - VITAMIN D RESISTANT RICKETS
OCULO-CEREBRO-OSSEOUS SYNDROME
ORO-MANDIBULAR-LIMB HYPOGENESIS SYNDROME
JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT		TCTN3 ; OFD1 ; TMEM216 ; KIF7
BRUCK SYNDROME		FKBP10 ; PLOD2
PACHYDERMOPERIOSTOSIS		HPGD ; SLCO2A1
STIFF SKIN SYNDROME		FBN1
SHORT STATURE - MICROCEPHALY - HEART DEFECT
EHLERS-DANLOS SYNDROME, CLASSIC TYPE
PHAKOMATOSIS PIGMENTOVASCULARIS
PILOTTO SYNDROME
LEUKOCYTE ADHESION DEFICIENCY
BARAITSER-WINTER SYNDROME		ACTG1 ; ACTB
INTELLECTUAL DEFICIT - HYPOTONIA - SKIN HYPERPIGMENTATION
DEAFNESS - GENITAL ANOMALIES - METACARPAL AND METATARSAL SYNOSTOSIS
DEAFNESS - ONYCHODYSTROPHY
MULTIPLE SYNOSTOSES SYNDROME		NOG ; FGF9 ; GDF5
ZLOTOGORA-OGUR SYNDROME		PVRL1
BOWED TIBIAE - RADIAL ANOMALIES - OSTEOPENIA - FRACTURES
TRIOPIA
TRISOMY 13
TRISOMY 18
WAARDENBURG SYNDROME
WEAVER SYNDROME		EZH2 ; NSD1
WEAVER-WILLIAMS SYNDROME
ISOLATED PLAGIOCEPHALY		FGFR3 ; EFNA4
ISOLATED BRACHYCEPHALY		TWIST1 ; FGFR3
GM1 GANGLIOSIDOSIS
CONGENITAL HYPOTHYROIDISM
JOUBERT SYNDROME		CEP41 ; TCTN1 ; TMEM67 ; ARL13B ; TMEM237 ; KIF7 ; INPP5E ; TMEM231 ; C5ORF42
LEOPARD SYNDROME		PTPN11 ; RAF1 ; BRAF
MICROLISSENCEPHALY - MICROMELIA
ALAGILLE SYNDROME
BRANCHIO-OTIC SYNDROME		SIX1 ; EYA1
CUSHING SYNDROME
MARFAN SYNDROME
MUCOLIPIDOSIS TYPE 3		GNPTG ; GNPTAB
MUCOPOLYSACCHARIDOSIS TYPE 1
MUCOPOLYSACCHARIDOSIS TYPE 4
NOONAN SYNDROME		PTPN11 ; CBL ; SOS1 ; NF1 ; RAF1 ; NRAS ; KRAS ; KAT6B ; BRAF
OSTEOGENESIS IMPERFECTA
OTOPALATODIGITAL SYNDROME
DENTINOGENESIS IMPERFECTA - SHORT STATURE - HEARING LOSS - INTELLECTUAL DEFICIT
PYRUVATE DEHYDROGENASE DEFICIENCY
TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3		TRPS1
AXENFELD-RIEGER SYNDROME		FOXC1 ; PITX2
FOCAL FACIAL DERMAL DYSPLASIA		CYP26C1 ; TWIST2
SECKEL SYNDROME		RBBP8 ; ATRIP ; CENPJ ; PCNT ; ATR ; CEP152
SILVER-RUSSELL SYNDROME
SOTOS SYNDROME		NSD1 ; NFIX
STICKLER SYNDROME
FREE SIALIC ACID STORAGE DISEASE
FANCONI ANEMIA		FANCL ; FANCA ; SLX4 ; BRCA2 ; BRIP1 ; FANCB ; FANCG ; FANCF ; FANCI ; FANCD2 ; FANCC ; FANCE ; FANCM ; PALB2 ; RAD51C
INTELLECTUAL DEFICIT, X-LINKED, STEVENSON TYPE
INTELLECTUAL DEFICIT, X-LINKED - HYPOTONIA - FACIAL DYSMORPHISM - AGGRESSIVE BEHAVIOR
SIALIDOSIS TYPE 2
ZELLWEGER SYNDROME		PEX19 ; PEX2 ; PEX12 ; PEX10 ; PEX14 ; PEX16 ; PEX5 ; PEX13 ; PEX1 ; PEX3 ; PEX6 ; PEX11B ; PEX26
AARSKOG-SCOTT SYNDROME		FGD1
ACHONDROGENESIS
PFEIFFER SYNDROME TYPE 1		FGFR1 ; FGFR2
PFEIFFER SYNDROME TYPE 2		FGFR2
PFEIFFER SYNDROME TYPE 3		FGFR2
THANATOPHORIC DWARFISM TYPE II		FGFR3
X-LINKED INTELLECTUAL DEFICIT, GOLABI-ITO-HALL TYPE		PQBP1
12Q14 MICRODELETION SYNDROME		LEMD3 ; HMGA2
SEVERE INTELLECTUAL DEFICIT - EPILEPSY - ANAL ANOMALIES - DISTAL PHALANGEAL HYPOPLASIA
ACRODYSOSTOSIS		PDE4D ; PRKAR1A
ACROOSTEOLYSIS DOMINANT TYPE		NOTCH2
ATHYREOSIS		FOXE1 ; NKX2-1 ; TSHR ; NKX2-5 ; PAX8
CONGENITAL HYPOTHYROIDISM DUE TO TRANSPLACENTAL PASSAGE OF MATERNAL TSH-BINDING INHIBITORY ANTIBODIES
FAMILIAL THYROID DYSHORMONOGENESIS		IYD ; DUOXA2 ; DUOX2 ; SLC5A5 ; TPO ; TG
IDIOPATHIC CONGENITAL HYPOTHYROIDISM
THYROID HYPOPLASIA		FOXE1 ; NKX2-1 ; TSHR ; NKX2-5 ; PAX8
MOSAIC TRISOMY 8
DISTAL MONOSOMY 19P13.3
KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION		EHMT1
48,XXXY SYNDROME
ACROMEGALOID FACIES - HYPERTRICHOSIS
PERIPHERAL RESISTANCE TO THYROID HORMONES		THRB ; THRA
RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME		TRHR
CUSHING SYNDROME DUE TO ECTOPIC ACTH SECRETION