Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the upper limbs (HP:0006496)help
Parent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
..Starting node
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Small hand (HP:0200055)help
Term ID: 200055
Name: Small hand
Synonym: Disproportionately small hands; Small hand; Small hands
Definition: Disproportionately small hand.
Comments:
Reference: HP:0200055
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent hand (HP:0004050) help
..expandAplasia/Hypoplasia involving the carpal bones (HP:0006502) help
..expandAplasia/Hypoplasia involving the metacarpal bones (HP:0005914) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandShort palm (HP:0004279) 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:0200055HP:0200055Small hand0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0200055HP:0200055Small hand0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0200055HP:0200055Small hand0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0200055HP:0200055Small hand0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0200055HP:0200055Small hand0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0200055HP:0200055Small hand0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent85
HP:0200055HP:0200055Small hand0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0200055HP:0200055Small hand0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0200055HP:0200055Small hand0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0200055HP:0200055Small hand0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0200055HP:0200055Small hand0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive.20
HP:0200055HP:0200055Small hand0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0200055HP:0200055Small hand0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0200055HP:0200055Small hand0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0200055HP:0200055Small hand0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson typeHP:0040281 - Very frequent67
HP:0200055HP:0200055Small hand0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0200055HP:0200055Small hand0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040282 - Frequent749
HP:0200055HP:0200055Small hand0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent
HP:0200055HP:0200055Small hand0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040282 - Frequent15
HP:0200055HP:0200055Small hand0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0200055HP:0200055Small hand0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0200055HP:0200055Small hand0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0200055HP:0200055Small hand0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0200055HP:0200055Small hand0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0200055HP:0200055Small hand0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0200055HP:0200055Small hand0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent209
HP:0200055HP:0200055Small hand0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040282 - Frequent137
HP:0200055HP:0200055Small hand0FAM50A CL E G H913018786OMIM:300261Mental retardation syndrome, X-linked, Armfield type.
HP:0200055HP:0200055Small hand0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent1361
HP:0200055HP:0200055Small hand0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0200055HP:0200055Small hand0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0200055HP:0200055Small hand0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040281 - Very frequent62
HP:0200055HP:0200055Small hand0FGFR2 CL E G H22633689ORPHA:93259Pfeiffer syndrome type 2HP:0040282 - Frequent175
HP:0200055HP:0200055Small hand0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040282 - Frequent175
HP:0200055HP:0200055Small hand0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0200055HP:0200055Small hand0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0200055HP:0200055Small hand0GABBR2 CL E G H95684507OMIM:617903Neurodevelopmental disorder with poor language and loss of hand skills.5
HP:0200055HP:0200055Small hand0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0200055HP:0200055Small hand0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0200055HP:0200055Small hand0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0200055HP:0200055Small hand0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0200055HP:0200055Small hand0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0200055HP:0200055Small hand0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0200055HP:0200055Small hand0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0200055HP:0200055Small hand0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0200055HP:0200055Small hand0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0200055HP:0200055Small hand0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0200055HP:0200055Small hand0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0200055HP:0200055Small hand0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0200055HP:0200055Small hand0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0200055HP:0200055Small hand0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0200055HP:0200055Small hand0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0200055HP:0200055Small hand0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0200055HP:0200055Small hand0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0200055HP:0200055Small hand0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0200055HP:0200055Small hand0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0200055HP:0200055Small hand0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0200055HP:0200055Small hand0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent12
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0200055HP:0200055Small hand0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0200055HP:0200055Small hand0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0200055HP:0200055Small hand0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0200055HP:0200055Small hand0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0200055HP:0200055Small hand0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0200055HP:0200055Small hand0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0200055HP:0200055Small hand0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0200055HP:0200055Small hand0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0200055HP:0200055Small hand0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0200055HP:0200055Small hand0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent
HP:0200055HP:0200055Small hand0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0200055HP:0200055Small hand0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0200055HP:0200055Small hand0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0200055HP:0200055Small hand0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation.32
HP:0200055HP:0200055Small hand0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0200055HP:0200055Small hand0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0200055HP:0200055Small hand0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0200055HP:0200055Small hand0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0200055HP:0200055Small hand0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0200055HP:0200055Small hand0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0200055HP:0200055Small hand0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0200055HP:0200055Small hand0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0200055HP:0200055Small hand0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0200055HP:0200055Small hand0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0200055HP:0200055Small hand0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0200055HP:0200055Small hand0PRIM1 CL E G H55579369OMIM:620005
HP:0200055HP:0200055Small hand0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0200055HP:0200055Small hand0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0200055HP:0200055Small hand0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0200055HP:0200055Small hand0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0200055HP:0200055Small hand0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0200055HP:0200055Small hand0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0200055HP:0200055Small hand0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent
HP:0200055HP:0200055Small hand0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent
HP:0200055HP:0200055Small hand0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0200055HP:0200055Small hand0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0200055HP:0200055Small hand0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0200055HP:0200055Small hand0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040282 - Frequent6
HP:0200055HP:0200055Small hand0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0200055HP:0200055Small hand0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0200055HP:0200055Small hand0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0200055HP:0200055Small hand0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0200055HP:0200055Small hand0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0200055HP:0200055Small hand0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0200055HP:0200055Small hand0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0200055HP:0200055Small hand0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0200055HP:0200055Small hand0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0200055HP:0200055Small hand0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0200055HP:0200055Small hand0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0200055HP:0200055Small hand0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0200055HP:0200055Small hand0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0200055HP:0200055Small hand0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0200055HP:0200055Small hand0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0200055HP:0200055Small hand0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0200055HP:0200055Small hand0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0200055HP:0200055Small hand0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0200055HP:0200055Small hand0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0200055HP:0200055Small hand0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0200055HP:0200055Small hand0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0200055HP:0200055Small hand0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0200055HP:0200055Small hand0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040283 - Occasional12
HP:0200055HP:0200055Small hand0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0200055HP:0200055Small hand0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0200055HP:0200055Small hand0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0200055HP:0200055Small hand0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0200055HP:0200055Small hand0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0200055HP:0200055Small hand0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0200055HP:0200055Small hand0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0200055HP:0200055Small hand0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0200055HP:0200055Small hand0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0200055HP:0200055Small hand0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040282 - Frequent14


Genes (111) :ADNP AFF4 ALG13 BPTF BRD4 CANT1 CCBE1 CDK10 CDKL5 CENPE CHUK CNOT3 COG1 COG4 COL11A1 COL3A1 CSGALNACT1 CTNND2 CTSK CUL4B DLK1 DPH1 DPM1 DVL1 EVC EVC2 FAM50A FBN1 FBXO11 FBXO28 FGD1 FGFR2 FMR1 GABBR2 GALNT2 GJA1 HDAC4 HDAC8 HERC2 HPGD HTT HUWE1 IGF1R IPW KCNJ2 KCNJ5 KDM6A KIF5C KIFBP KMT2D LAS1L LIG4 LTBP3 MAGEL2 MAPK8IP3 MCTP2 MECP2 MEG3 MIR140 MKRN3 MKRN3-AS1 NALCN NDN NGLY1 NIPBL NPAP1 NSUN2 NTNG1 OCA2 ORC1 PCGF2 PIGN POC1A PPM1D PRIM1 PUM1 PWAR1 PWRN1 RAD21 RECQL4 RMRP RNF2 ROR2 RTL1 SATB1 SATB2 SEMA5A SIM1 SIN3A SLC6A17 SLCO2A1 SMARCD1 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SON SPECC1L TBCE TCF4 TELO2 TRPV4 TUBB3 UNC80 USP7 USP9X WDR81 WNT5A WRN XYLT1

Diseases (103) :OMIM:615873 ORPHA:444077 OMIM:300884 OMIM:617755 ORPHA:199 ORPHA:1425 OMIM:235510 OMIM:617694 ORPHA:3095 OMIM:300672 OMIM:616051 OMIM:619339 OMIM:618672 OMIM:611209 ORPHA:85172 OMIM:228520 ORPHA:2500 ORPHA:281 ORPHA:763 OMIM:300354 ORPHA:85293 ORPHA:96184 ORPHA:254531 ORPHA:254525 ORPHA:459061 OMIM:608799 OMIM:180700 ORPHA:952 OMIM:300261 ORPHA:969 OMIM:618089 OMIM:619777 ORPHA:915 ORPHA:93259 ORPHA:93260 ORPHA:261483 OMIM:617903 OMIM:618885 OMIM:257850 ORPHA:1001 OMIM:300882 ORPHA:3459 OMIM:176270 ORPHA:2796 OMIM:617435 OMIM:309590 OMIM:270450 OMIM:170390 ORPHA:37553 ORPHA:2322 OMIM:615282 OMIM:609460 ORPHA:235 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:618443 ORPHA:1596 OMIM:300055 OMIM:618618 ORPHA:371364 OMIM:615273 OMIM:224690 OMIM:618371 ORPHA:280633 OMIM:614813 OMIM:617450 OMIM:620005 OMIM:617931 OMIM:268400 ORPHA:175 OMIM:619460 OMIM:268310 OMIM:619229 ORPHA:251028 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:616269 OMIM:618779 OMIM:300590 OMIM:301044 OMIM:610759 ORPHA:177907 OMIM:617140 OMIM:145420 ORPHA:93324 OMIM:241410 OMIM:244460 ORPHA:2323 OMIM:610954 ORPHA:2896 ORPHA:488642 OMIM:181405 ORPHA:300570 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:610185 ORPHA:902
 

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