Human Phenotype Ontology 
Grandparent Node:
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Abnormal facial shape (HP:0001999)help
Parent Node:
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Large face (HP:0100729)help
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Long face (HP:0000276)help
Term ID: 276
Name: Long face
Synonym: Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face
Definition: Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Comments:
Reference: HP:0000276
Genes and Diseases:
 
       Child Nodes:

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..expandBroad face (HP:0000283) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000276HP:0000276Long face0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000276HP:0000276Long face0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0000276HP:0000276Long face0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000276HP:0000276Long face0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000276HP:0000276Long face0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0000276HP:0000276Long face0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040282 - Frequent175
HP:0000276HP:0000276Long face0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040282 - Frequent175
HP:0000276HP:0000276Long face0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0000276HP:0000276Long face0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000276HP:0000276Long face0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000276HP:0000276Long face0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000276HP:0000276Long face0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000276HP:0000276Long face0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000276HP:0000276Long face0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000276HP:0000276Long face0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0000276HP:0000276Long face0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeHP:0040281 - Very frequent13
HP:0000276HP:0000276Long face0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0000276HP:0000276Long face0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0000276HP:0000276Long face0APC2 CL E G H1029724036OMIM:617169Sotos syndrome 3.1
HP:0000276HP:0000276Long face0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040282 - Frequent62
HP:0000276HP:0000276Long face0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040282 - Frequent1
HP:0000276HP:0000276Long face0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000276HP:0000276Long face0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000276HP:0000276Long face0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000276HP:0000276Long face0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000276HP:0000276Long face0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000276HP:0000276Long face0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000276HP:0000276Long face0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000276HP:0000276Long face0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000276HP:0000276Long face0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000276HP:0000276Long face0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000276HP:0000276Long face0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040282 - Frequent28
HP:0000276HP:0000276Long face0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040282 - Frequent34
HP:0000276HP:0000276Long face0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000276HP:0000276Long face0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000276HP:0000276Long face0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000276HP:0000276Long face0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000276HP:0000276Long face0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000276HP:0000276Long face0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0000276HP:0000276Long face0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0000276HP:0000276Long face0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0000276HP:0000276Long face0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040282 - Frequent13
HP:0000276HP:0000276Long face0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000276HP:0000276Long face0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0000276HP:0000276Long face0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000276HP:0000276Long face0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040282 - Frequent1
HP:0000276HP:0000276Long face0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000276HP:0000276Long face0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000276HP:0000276Long face0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIOHP:0040283 - Occasional3
HP:0000276HP:0000276Long face0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000276HP:0000276Long face0CDC42BPB CL E G H95781738OMIM:619841
HP:0000276HP:0000276Long face0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040282 - Frequent5
HP:0000276HP:0000276Long face0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040282 - Frequent7
HP:0000276HP:0000276Long face0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040282 - Frequent7
HP:0000276HP:0000276Long face0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000276HP:0000276Long face0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040282 - Frequent90
HP:0000276HP:0000276Long face0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040282 - Frequent90
HP:0000276HP:0000276Long face0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0000276HP:0000276Long face0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000276HP:0000276Long face0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0000276HP:0000276Long face0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000276HP:0000276Long face0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000276HP:0000276Long face0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000276HP:0000276Long face0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000276HP:0000276Long face0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000276HP:0000276Long face0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0000276HP:0000276Long face0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000276HP:0000276Long face0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0000276HP:0000276Long face0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000276HP:0000276Long face0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000276HP:0000276Long face0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000276HP:0000276Long face0CPSF3 CL E G H516922326OMIM:619876
HP:0000276HP:0000276Long face0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000276HP:0000276Long face0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040282 - Frequent57
HP:0000276HP:0000276Long face0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000276HP:0000276Long face0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0000276HP:0000276Long face0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0000276HP:0000276Long face0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000276HP:0000276Long face0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000276HP:0000276Long face0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent20
HP:0000276HP:0000276Long face0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0000276HP:0000276Long face0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0000276HP:0000276Long face0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent199
HP:0000276HP:0000276Long face0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0000276HP:0000276Long face0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent55
HP:0000276HP:0000276Long face0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000276HP:0000276Long face0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000276HP:0000276Long face0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0000276HP:0000276Long face0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000276HP:0000276Long face0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000276HP:0000276Long face0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000276HP:0000276Long face0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040282 - Frequent18
HP:0000276HP:0000276Long face0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0000276HP:0000276Long face0FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040282 - Frequent18
HP:0000276HP:0000276Long face0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000276HP:0000276Long face0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000276HP:0000276Long face0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000276HP:0000276Long face0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000276HP:0000276Long face0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000276HP:0000276Long face0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000276HP:0000276Long face0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0000276HP:0000276Long face0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0000276HP:0000276Long face0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0000276HP:0000276Long face0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000276HP:0000276Long face0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000276HP:0000276Long face0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000276HP:0000276Long face0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0000276HP:0000276Long face0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0000276HP:0000276Long face0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000276HP:0000276Long face0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040282 - Frequent31
HP:0000276HP:0000276Long face0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040282 - Frequent111
HP:0000276HP:0000276Long face0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0000276HP:0000276Long face0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040282 - Frequent111
HP:0000276HP:0000276Long face0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0000276HP:0000276Long face0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000276HP:0000276Long face0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000276HP:0000276Long face0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000276HP:0000276Long face0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000276HP:0000276Long face0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000276HP:0000276Long face0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000276HP:0000276Long face0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0000276HP:0000276Long face0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040282 - Frequent24
HP:0000276HP:0000276Long face0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000276HP:0000276Long face0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000276HP:0000276Long face0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000276HP:0000276Long face0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000276HP:0000276Long face0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0000276HP:0000276Long face0LETM1 CL E G H39546556OMIM:6200892
HP:0000276HP:0000276Long face0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040284 - Very rare93
HP:0000276HP:0000276Long face0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000276HP:0000276Long face0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0000276HP:0000276Long face0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0000276HP:0000276Long face0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000276HP:0000276Long face0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000276HP:0000276Long face0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000276HP:0000276Long face0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000276HP:0000276Long face0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000276HP:0000276Long face0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040283 - Occasional7
HP:0000276HP:0000276Long face0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0000276HP:0000276Long face0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040281 - Very frequent33
HP:0000276HP:0000276Long face0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000276HP:0000276Long face0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040282 - Frequent127
HP:0000276HP:0000276Long face0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040282 - Frequent127
HP:0000276HP:0000276Long face0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040284 - Very rare101
HP:0000276HP:0000276Long face0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0000276HP:0000276Long face0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0000276HP:0000276Long face0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0000276HP:0000276Long face0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000276HP:0000276Long face0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0000276HP:0000276Long face0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000276HP:0000276Long face0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0000276HP:0000276Long face0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000276HP:0000276Long face0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000276HP:0000276Long face0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0000276HP:0000276Long face0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0000276HP:0000276Long face0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040282 - Frequent217
HP:0000276HP:0000276Long face0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000276HP:0000276Long face0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000276HP:0000276Long face0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000276HP:0000276Long face0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0000276HP:0000276Long face0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development.1
HP:0000276HP:0000276Long face0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0000276HP:0000276Long face0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000276HP:0000276Long face0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000276HP:0000276Long face0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040281 - Very frequent88
HP:0000276HP:0000276Long face0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000276HP:0000276Long face0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000276HP:0000276Long face0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000276HP:0000276Long face0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent85
HP:0000276HP:0000276Long face0NRCAM CL E G H48977994OMIM:6198332
HP:0000276HP:0000276Long face0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0000276HP:0000276Long face0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000276HP:0000276Long face0NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000276HP:0000276Long face0NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000276HP:0000276Long face0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000276HP:0000276Long face0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000276HP:0000276Long face0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000276HP:0000276Long face0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0000276HP:0000276Long face0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0000276HP:0000276Long face0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0000276HP:0000276Long face0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0000276HP:0000276Long face0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000276HP:0000276Long face0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000276HP:0000276Long face0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000276HP:0000276Long face0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000276HP:0000276Long face0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0000276HP:0000276Long face0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040281 - Very frequent23
HP:0000276HP:0000276Long face0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040282 - Frequent4
HP:0000276HP:0000276Long face0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000276HP:0000276Long face0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000276HP:0000276Long face0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000276HP:0000276Long face0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0000276HP:0000276Long face0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome.2
HP:0000276HP:0000276Long face0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0000276HP:0000276Long face0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000276HP:0000276Long face0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040283 - Occasional10
HP:0000276HP:0000276Long face0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000276HP:0000276Long face0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040281 - Very frequent28
HP:0000276HP:0000276Long face0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040282 - Frequent28
HP:0000276HP:0000276Long face0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0000276HP:0000276Long face0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0000276HP:0000276Long face0PRKACA CL E G H55669380OMIM:619142CARDIOACROFACIAL DYSPLASIA 1; CAFD12
HP:0000276HP:0000276Long face0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0000276HP:0000276Long face0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000276HP:0000276Long face0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000276HP:0000276Long face0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000276HP:0000276Long face0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 72.34
HP:0000276HP:0000276Long face0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0000276HP:0000276Long face0RECQL4 CL E G H94019949OMIM:266280Rapadilino syndrome.445
HP:0000276HP:0000276Long face0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000276HP:0000276Long face0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0000276HP:0000276Long face0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent167
HP:0000276HP:0000276Long face0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000276HP:0000276Long face0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0000276HP:0000276Long face0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000276HP:0000276Long face0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000276HP:0000276Long face0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000276HP:0000276Long face0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0000276HP:0000276Long face0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000276HP:0000276Long face0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0000276HP:0000276Long face0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0000276HP:0000276Long face0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000276HP:0000276Long face0SETBP1 CL E G H2604015573ORPHA:436151Intellectual disability-expressive aphasia-facial dysmorphism syndromeHP:0040283 - Occasional143
HP:0000276HP:0000276Long face0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000276HP:0000276Long face0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome60
HP:0000276HP:0000276Long face0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0000276HP:0000276Long face0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040283 - Occasional83
HP:0000276HP:0000276Long face0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000276HP:0000276Long face0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000276HP:0000276Long face0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000276HP:0000276Long face0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000276HP:0000276Long face0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0000276HP:0000276Long face0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0000276HP:0000276Long face0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040282 - Frequent178
HP:0000276HP:0000276Long face0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0000276HP:0000276Long face0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0000276HP:0000276Long face0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000276HP:0000276Long face0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0000276HP:0000276Long face0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0000276HP:0000276Long face0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0000276HP:0000276Long face0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0000276HP:0000276Long face0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0000276HP:0000276Long face0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0000276HP:0000276Long face0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000276HP:0000276Long face0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0000276HP:0000276Long face0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0000276HP:0000276Long face0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000276HP:0000276Long face0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000276HP:0000276Long face0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000276HP:0000276Long face0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000276HP:0000276Long face0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000276HP:0000276Long face0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000276HP:0000276Long face0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0000276HP:0000276Long face0STT3A CL E G H37036172OMIM:619714CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD21
HP:0000276HP:0000276Long face0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040282 - Frequent124
HP:0000276HP:0000276Long face0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000276HP:0000276Long face0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000276HP:0000276Long face0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0000276HP:0000276Long face0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000276HP:0000276Long face0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000276HP:0000276Long face0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000276HP:0000276Long face0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000276HP:0000276Long face0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000276HP:0000276Long face0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040282 - Frequent45
HP:0000276HP:0000276Long face0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040282 - Frequent76
HP:0000276HP:0000276Long face0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000276HP:0000276Long face0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000276HP:0000276Long face0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000276HP:0000276Long face0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000276HP:0000276Long face0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000276HP:0000276Long face0TMEM147 CL E G H1043030414OMIM:620075
HP:0000276HP:0000276Long face0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000276HP:0000276Long face0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000276HP:0000276Long face0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000276HP:0000276Long face0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040282 - Frequent82
HP:0000276HP:0000276Long face0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000276HP:0000276Long face0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040282 - Frequent82
HP:0000276HP:0000276Long face0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040282 - Frequent166
HP:0000276HP:0000276Long face0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0000276HP:0000276Long face0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0000276HP:0000276Long face0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000276HP:0000276Long face0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040282 - Frequent54
HP:0000276HP:0000276Long face0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000276HP:0000276Long face0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0000276HP:0000276Long face0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000276HP:0000276Long face0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040282 - Frequent108
HP:0000276HP:0000276Long face0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000276HP:0000276Long face0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0000276HP:0000276Long face0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000276HP:0000276Long face0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000276HP:0000276Long face0TPRKB CL E G H5100224259OMIM:617731Galloway-Mowat syndrome 5
HP:0000276HP:0000276Long face0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000276HP:0000276Long face0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000276HP:0000276Long face0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000276HP:0000276Long face0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000276HP:0000276Long face0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000276HP:0000276Long face0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000276HP:0000276Long face0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000276HP:0000276Long face0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000276HP:0000276Long face0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000276HP:0000276Long face0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0000276HP:0000276Long face0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0000276HP:0000276Long face0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000276HP:0000276Long face0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000276HP:0000276Long face0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734


Genes (241) :ACTA1 ADAT3 AGRN AHI1 AIP AKT1 ALG12 ALKBH8 ANKRD11 AP1S2 APC APC2 ARL13B ARL3 ARMC9 ARVCF ASPH ASXL1 ASXL2 ATAD3A ATG7 ATP7A B3GLCT B9D1 B9D2 BCAS3 BCOR BCORL1 BCR BIN1 BRAF BRWD3 C12ORF57 CAMTA1 CBY1 CC2D2A CCDC115 CCDC174 CDC42BPB CEP104 CEP120 CEP290 CEP41 CEP57 CHAMP1 CHAT CHRNB1 CHRNE CHRNG CLCN3 CLCN4 COL13A1 COL3A1 COMT CPLANE1 CPSF3 CRKL CSPP1 DDR2 DDX3X DOCK3 EBF3 EIF2S3 ERCC1 ERCC4 ERCC6 ERCC8 EXTL3 EYA1 FAM149B1 FBN1 FBXO11 FGF3 FMR1 GALNT2 GFPT1 GP1BB GPR101 HACD1 HERC1 HIRA HNRNPH1 HNRNPK HUWE1 HYLS1 INPP5E ITGA7 JMJD1C KANSL1 KAT6A KATNIP KBTBD13 KCNK9 KIAA0586 KIAA0753 KIF7 KLHL41 KMT2B KRAS LETM1 MAN1B1 MAP2K1 MAP2K2 MAP3K20 MAPK1 MAPK8IP3 MAPRE2 MED12 MEIS2 MGP MID2 MKS1 MMACHC MOCS1 MOCS2 MRAS MSTO1 MTM1 MYH3 MYH7 MYL2 MYO9A MYPN NBAS NEB NF1 NFIB NFIX NHS NKAP NONO NPHP1 NRCAM NSD1 NSDHL NSUN2 OCRL OFD1 OPHN1 OTUD6B PAK1 PBX1 PCDHGC4 PCGF2 PDE6D PHF8 PIBF1 PIGK PIGU PMM2 POC1A POLA1 POU4F1 PPP1R12A PPP2R5D PQBP1 PRDX1 PRKACA PRKACB PTEN PURA PYROXD1 RAB39B RAPSN RECQL4 RIC1 RPGRIP1L RPL10 RREB1 RUSC2 RYR1 SATB2 SCUBE3 SEC24C SELENON SETBP1 SETD2 SGCG SIN3A SIX1 SLC12A6 SLC16A2 SLC18A3 SLC25A1 SLC2A10 SLC5A7 SLC6A8 SLC9A6 SLC9A7 SMAD2 SMAD3 SMS SNAP25 SNAP29 SOX6 SPEG SPEN SRCAP STEEP1 STRADA STT3A SUFU SYNE1 SYNGAP1 SYT2 TAB2 TAF1 TBX1 TCF20 TCTN1 TCTN2 TCTN3 TET3 TGFB3 TLK2 TMEM138 TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TONSL TOPORS TPM2 TPM3 TPRKB TRAIP TSPAN7 TTC26 TTC5 TTN UBE3B UFD1 UPF3B VAMP1 WNT7A XRCC4 ZNF423 ZNF711

Diseases (213) :ORPHA:171439 ORPHA:2020 OMIM:255310 ORPHA:363528 ORPHA:98914 ORPHA:475 ORPHA:220493 ORPHA:963 ORPHA:744 OMIM:176920 ORPHA:79324 OMIM:618504 ORPHA:261250 ORPHA:85335 OMIM:304340 ORPHA:85329 ORPHA:261584 ORPHA:821 OMIM:617169 ORPHA:567 OMIM:601552 OMIM:605039 OMIM:617190 OMIM:617183 ORPHA:496790 OMIM:619422 OMIM:304150 ORPHA:709 OMIM:261540 OMIM:619641 OMIM:300166 OMIM:301029 ORPHA:261330 ORPHA:169186 OMIM:255200 ORPHA:1340 OMIM:300659 ORPHA:1777 OMIM:218340 OMIM:614756 ORPHA:314647 ORPHA:1454 ORPHA:2318 OMIM:616828 OMIM:616816 OMIM:619841 OMIM:614114 OMIM:616579 OMIM:616313 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:619512 ORPHA:485350 OMIM:300114 OMIM:618343 ORPHA:2754 OMIM:619876 OMIM:618175 OMIM:300958 OMIM:618292 OMIM:617330 OMIM:300148 ORPHA:90322 ORPHA:90321 ORPHA:508533 OMIM:113650 OMIM:166780 OMIM:154700 OMIM:618089 ORPHA:90024 OMIM:610706 ORPHA:2791 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:618885 OMIM:617011 ORPHA:457359 OMIM:620083 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:309590 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 OMIM:612292 ORPHA:589618 OMIM:620089 ORPHA:397941 OMIM:614202 OMIM:615280 OMIM:618443 OMIM:616734 OMIM:309520 OMIM:300895 ORPHA:261190 OMIM:245150 ORPHA:85202 OMIM:300928 ORPHA:79282 OMIM:277400 OMIM:252150 OMIM:252160 OMIM:618499 ORPHA:502423 OMIM:617675 OMIM:310400 ORPHA:596 ORPHA:171881 OMIM:614800 ORPHA:363700 OMIM:618286 ORPHA:447980 OMIM:614753 OMIM:302350 ORPHA:627 OMIM:301039 ORPHA:466791 OMIM:300967 ORPHA:220497 OMIM:619833 OMIM:117550 OMIM:300831 ORPHA:251383 OMIM:611091 ORPHA:534 OMIM:300486 ORPHA:505237 OMIM:617452 OMIM:618158 OMIM:617641 OMIM:619880 OMIM:618371 OMIM:300263 ORPHA:85287 OMIM:618879 OMIM:618590 ORPHA:79318 OMIM:614813 OMIM:301030 OMIM:618820 ORPHA:457279 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 OMIM:619142 OMIM:619143 ORPHA:438216 OMIM:617258 OMIM:300271 OMIM:616326 OMIM:266280 OMIM:618761 ORPHA:459070 OMIM:617773 ORPHA:251019 OMIM:612313 ORPHA:251028 OMIM:619184 ORPHA:436151 OMIM:616078 OMIM:616831 ORPHA:353 ORPHA:94065 OMIM:613406 OMIM:218000 ORPHA:59 ORPHA:3342 OMIM:208050 OMIM:300352 ORPHA:85278 OMIM:300243 OMIM:301024 OMIM:619657 OMIM:619656 ORPHA:284984 OMIM:613795 ORPHA:3063 ORPHA:66631 OMIM:609528 OMIM:618971 OMIM:619312 OMIM:619595 OMIM:301013 OMIM:611087 OMIM:619714 ORPHA:319332 ORPHA:544254 ORPHA:228410 OMIM:300966 ORPHA:480907 OMIM:618430 OMIM:618798 OMIM:615582 OMIM:618050 OMIM:620075 ORPHA:93357 OMIM:609284 OMIM:617731 OMIM:616777 OMIM:300210 OMIM:619534 OMIM:619244 OMIM:244450 ORPHA:2707 OMIM:300676 OMIM:276820 OMIM:616541 OMIM:300803
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.