Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Growth abnormality (HP:0001507)help
..Starting node
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Growth delay (HP:0001510)help
Term ID: 1510
Name: Growth delay
Synonym: Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth; Very poor growth
Definition: A deficiency or slowing down of growth pre- and postnatally.
Comments:
Reference: HP:0001510
Genes and Diseases:
 
       Child Nodes:
........expandDelayed puberty (HP:0000823) help
................... HP:0012569 Delayed menarche
................... HP:0025453 Delayed adrenarche
................... HP:0025515 Delayed thelarche
........expandIntrauterine growth retardation (HP:0001511) help
................... HP:0008846 Severe intrauterine growth retardation
................... HP:0008883 Mild intrauterine growth retardation
................... HP:0011408 Moderate intrauterine growth retardation
........expandShort stature (HP:0004322) help
................... HP:0000839 Pituitary dwarfism
................... HP:0003498 Disproportionate short stature
................... HP:0003508 Proportionate short stature
................... HP:0003561 Birth length less than 3rd percentile
................... HP:0008929 Asymmetric short stature
........expandPostnatal growth retardation (HP:0008897) help
................... HP:0001530 Mild postnatal growth retardation
................... HP:0008850 Severe postnatal growth retardation
................... HP:0008855 Moderate postnatal growth retardation
........expandAbsent pubertal growth spurt (HP:0031087) help

 Sister Nodes: 
..expandAbnormality of body height (HP:0000002) help
..expandAbnormality of body weight (HP:0004323) help
..expandAsymmetric growth (HP:0100555) help
..expandHeterotaxy (HP:0030853) help
..expandIncreased body fat percentage (HP:0025521) 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:0001510HP:0001510Growth delay0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0001510HP:0001510Growth delay0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0001510HP:0001510Growth delay0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0001510HP:0001510Growth delay0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001510HP:0001510Growth delay0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001510HP:0001510Growth delay0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0001510HP:0001510Growth delay0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0001510HP:0001510Growth delay0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0001510HP:0001510Growth delay0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2146
HP:0001510HP:0001510Growth delay0ABCB6 CL E G H1005847ORPHA:241Dyschromatosis universalis hereditaria20
HP:0001510HP:0001510Growth delay0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxia35
HP:0001510HP:0001510Growth delay0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0001510HP:0001510Growth delay0ABCC8 CL E G H683359ORPHA:552MODY245
HP:0001510HP:0001510Growth delay0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0001510HP:0001510Growth delay0ABCD1 CL E G H21561ORPHA:388Hirschsprung disease135
HP:0001510HP:0001510Growth delay0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type.53
HP:0001510HP:0001510Growth delay0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0001510HP:0001510Growth delay0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome51
HP:0001510HP:0001510Growth delay0ACACA CL E G H3184OMIM:613933Acetyl-CoA carboxylase deficiency.
HP:0001510HP:0001510Growth delay0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency90
HP:0001510HP:0001510Growth delay0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans34
HP:0001510HP:0001510Growth delay0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0001510HP:0001510Growth delay0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0001510HP:0001510Growth delay0ACAN CL E G H176319ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley type34
HP:0001510HP:0001510Growth delay0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type34
HP:0001510HP:0001510Growth delay0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 611
HP:0001510HP:0001510Growth delay0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0001510HP:0001510Growth delay0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset
HP:0001510HP:0001510Growth delay0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0001510HP:0001510Growth delay0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0001510HP:0001510Growth delay0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0001510HP:0001510Growth delay0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0001510HP:0001510Growth delay0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0001510HP:0001510Growth delay0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0001510HP:0001510Growth delay0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0001510HP:0001510Growth delay0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0001510HP:0001510Growth delay0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040282 - Frequent22
HP:0001510HP:0001510Growth delay0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndrome63
HP:0001510HP:0001510Growth delay0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0001510HP:0001510Growth delay0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4214
HP:0001510HP:0001510Growth delay0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0001510HP:0001510Growth delay0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0001510HP:0001510Growth delay0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0001510HP:0001510Growth delay0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0001510HP:0001510Growth delay0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0001510HP:0001510Growth delay0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0001510HP:0001510Growth delay0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0001510HP:0001510Growth delay0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001510HP:0001510Growth delay0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0001510HP:0001510Growth delay0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0001510HP:0001510Growth delay0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001510HP:0001510Growth delay0ADGRG6 CL E G H5721113841OMIM:616503Lethal congenital contracture syndrome 95
HP:0001510HP:0001510Growth delay0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001510HP:0001510Growth delay0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0001510HP:0001510Growth delay0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0001510HP:0001510Growth delay0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001510HP:0001510Growth delay0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0001510HP:0001510Growth delay0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0001510HP:0001510Growth delay0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001510HP:0001510Growth delay0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome6
HP:0001510HP:0001510Growth delay0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0001510HP:0001510Growth delay0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0001510HP:0001510Growth delay0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0001510HP:0001510Growth delay0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiency216
HP:0001510HP:0001510Growth delay0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0001510HP:0001510Growth delay0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3117
HP:0001510HP:0001510Growth delay0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0001510HP:0001510Growth delay0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0001510HP:0001510Growth delay0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0001510HP:0001510Growth delay0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 171
HP:0001510HP:0001510Growth delay0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0001510HP:0001510Growth delay0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0001510HP:0001510Growth delay0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 389
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0001510HP:0001510Growth delay0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive.89
HP:0001510HP:0001510Growth delay0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndrome87
HP:0001510HP:0001510Growth delay0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0001510HP:0001510Growth delay0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0001510HP:0001510Growth delay0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0001510HP:0001510Growth delay0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040282 - Frequent73
HP:0001510HP:0001510Growth delay0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik58
HP:0001510HP:0001510Growth delay0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001510HP:0001510Growth delay0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001510HP:0001510Growth delay0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001510HP:0001510Growth delay0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0001510HP:0001510Growth delay0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0001510HP:0001510Growth delay0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0001510HP:0001510Growth delay0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0001510HP:0001510Growth delay0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0001510HP:0001510Growth delay0ALPL CL E G H249438OMIM:241510Hypophosphatasia, childhood126
HP:0001510HP:0001510Growth delay0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0001510HP:0001510Growth delay0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001510HP:0001510Growth delay0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0001510HP:0001510Growth delay0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0001510HP:0001510Growth delay0ALX4 CL E G H60529450ORPHA:52022Potocki-Shaffer syndrome132
HP:0001510HP:0001510Growth delay0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0001510HP:0001510Growth delay0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0001510HP:0001510Growth delay0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0001510HP:0001510Growth delay0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 6321
HP:0001510HP:0001510Growth delay0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0001510HP:0001510Growth delay0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0001510HP:0001510Growth delay0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001510HP:0001510Growth delay0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0001510HP:0001510Growth delay0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040284 - Very rare150
HP:0001510HP:0001510Growth delay0ANKLE2 CL E G H2314129101ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent3
HP:0001510HP:0001510Growth delay0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive3
HP:0001510HP:0001510Growth delay0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0001510HP:0001510Growth delay0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0001510HP:0001510Growth delay0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0001510HP:0001510Growth delay0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0001510HP:0001510Growth delay0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0001510HP:0001510Growth delay0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0001510HP:0001510Growth delay0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0001510HP:0001510Growth delay0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0001510HP:0001510Growth delay0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001510HP:0001510Growth delay0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001510HP:0001510Growth delay0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0001510HP:0001510Growth delay0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome13
HP:0001510HP:0001510Growth delay0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0001510HP:0001510Growth delay0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0001510HP:0001510Growth delay0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive49
HP:0001510HP:0001510Growth delay0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0001510HP:0001510Growth delay0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0001510HP:0001510Growth delay0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0001510HP:0001510Growth delay0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0001510HP:0001510Growth delay0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0001510HP:0001510Growth delay0APPL1 CL E G H2606024035ORPHA:552MODY2
HP:0001510HP:0001510Growth delay0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0001510HP:0001510Growth delay0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional75
HP:0001510HP:0001510Growth delay0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0001510HP:0001510Growth delay0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0001510HP:0001510Growth delay0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001510HP:0001510Growth delay0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0001510HP:0001510Growth delay0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0001510HP:0001510Growth delay0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndrome219
HP:0001510HP:0001510Growth delay0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0001510HP:0001510Growth delay0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001510HP:0001510Growth delay0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0001510HP:0001510Growth delay0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0001510HP:0001510Growth delay0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0001510HP:0001510Growth delay0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0001510HP:0001510Growth delay0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0001510HP:0001510Growth delay0ARPC4 CL E G H10093707OMIM:620141
HP:0001510HP:0001510Growth delay0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0001510HP:0001510Growth delay0ARSK CL E G H15364225239OMIM:619698MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001510HP:0001510Growth delay0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0001510HP:0001510Growth delay0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive
HP:0001510HP:0001510Growth delay0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001510HP:0001510Growth delay0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0001510HP:0001510Growth delay0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0001510HP:0001510Growth delay0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0001510HP:0001510Growth delay0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0001510HP:0001510Growth delay0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0001510HP:0001510Growth delay0ASL CL E G H435746ORPHA:23Argininosuccinic aciduria81
HP:0001510HP:0001510Growth delay0ASPM CL E G H25926619048ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent512
HP:0001510HP:0001510Growth delay0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive512
HP:0001510HP:0001510Growth delay0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0001510HP:0001510Growth delay0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0001510HP:0001510Growth delay0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001510HP:0001510Growth delay0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0001510HP:0001510Growth delay0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001510HP:0001510Growth delay0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0001510HP:0001510Growth delay0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001510HP:0001510Growth delay0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0001510HP:0001510Growth delay0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0001510HP:0001510Growth delay0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0001510HP:0001510Growth delay0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001510HP:0001510Growth delay0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0001510HP:0001510Growth delay0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0001510HP:0001510Growth delay0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22
HP:0001510HP:0001510Growth delay0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001510HP:0001510Growth delay0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0001510HP:0001510Growth delay0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0001510HP:0001510Growth delay0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA140
HP:0001510HP:0001510Growth delay0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0001510HP:0001510Growth delay0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0001510HP:0001510Growth delay0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0001510HP:0001510Growth delay0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0001510HP:0001510Growth delay0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0001510HP:0001510Growth delay0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0001510HP:0001510Growth delay0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0001510HP:0001510Growth delay0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0001510HP:0001510Growth delay0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0001510HP:0001510Growth delay0ATP7A CL E G H538869ORPHA:388Hirschsprung disease192
HP:0001510HP:0001510Growth delay0ATP7A CL E G H538869OMIM:309400Menkes disease192
HP:0001510HP:0001510Growth delay0ATP7A CL E G H538869ORPHA:565Menkes disease192
HP:0001510HP:0001510Growth delay0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndrome24
HP:0001510HP:0001510Growth delay0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1144
HP:0001510HP:0001510Growth delay0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0001510HP:0001510Growth delay0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0001510HP:0001510Growth delay0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0001510HP:0001510Growth delay0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0001510HP:0001510Growth delay0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001510HP:0001510Growth delay0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0001510HP:0001510Growth delay0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0001510HP:0001510Growth delay0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0001510HP:0001510Growth delay0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidusHP:0040282 - Frequent22
HP:0001510HP:0001510Growth delay0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked67
HP:0001510HP:0001510Growth delay0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040283 - Occasional67
HP:0001510HP:0001510Growth delay0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0001510HP:0001510Growth delay0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome38
HP:0001510HP:0001510Growth delay0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxity38
HP:0001510HP:0001510Growth delay0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0001510HP:0001510Growth delay0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001510HP:0001510Growth delay0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0001510HP:0001510Growth delay0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0001510HP:0001510Growth delay0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0001510HP:0001510Growth delay0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001510HP:0001510Growth delay0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0001510HP:0001510Growth delay0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001510HP:0001510Growth delay0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0001510HP:0001510Growth delay0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0001510HP:0001510Growth delay0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0001510HP:0001510Growth delay0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0001510HP:0001510Growth delay0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0001510HP:0001510Growth delay0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0001510HP:0001510Growth delay0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0001510HP:0001510Growth delay0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0001510HP:0001510Growth delay0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0001510HP:0001510Growth delay0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0001510HP:0001510Growth delay0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0001510HP:0001510Growth delay0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001510HP:0001510Growth delay0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0001510HP:0001510Growth delay0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0001510HP:0001510Growth delay0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0001510HP:0001510Growth delay0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0001510HP:0001510Growth delay0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0001510HP:0001510Growth delay0BCS1L CL E G H6171020OMIM:603358GRACILE SYNDROME72
HP:0001510HP:0001510Growth delay0BCS1L CL E G H6171020ORPHA:53693GRACILE syndrome72
HP:0001510HP:0001510Growth delay0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0001510HP:0001510Growth delay0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked7
HP:0001510HP:0001510Growth delay0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001510HP:0001510Growth delay0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0001510HP:0001510Growth delay0BLK CL E G H6401057ORPHA:552MODY75
HP:0001510HP:0001510Growth delay0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040281 - Very frequent314
HP:0001510HP:0001510Growth delay0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0001510HP:0001510Growth delay0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIII49
HP:0001510HP:0001510Growth delay0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0001510HP:0001510Growth delay0BMP15 CL E G H92101068OMIM:300510Ovarian dysgenesis 216
HP:0001510HP:0001510Growth delay0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0001510HP:0001510Growth delay0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0001510HP:0001510Growth delay0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0001510HP:0001510Growth delay0BMPR1A CL E G H6571076ORPHA:329971Generalized juvenile polyposis/juvenile polyposis coliHP:0040283 - Occasional385
HP:0001510HP:0001510Growth delay0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancy385
HP:0001510HP:0001510Growth delay0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0001510HP:0001510Growth delay0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe type90
HP:0001510HP:0001510Growth delay0BMPR1B CL E G H6581077ORPHA:93388Brachydactyly type A190
HP:0001510HP:0001510Growth delay0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0001510HP:0001510Growth delay0BMPR1B CL E G H6581077ORPHA:2639Fibular aplasia-complex brachydactyly syndrome90
HP:0001510HP:0001510Growth delay0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0001510HP:0001510Growth delay0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valve22
HP:0001510HP:0001510Growth delay0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type
HP:0001510HP:0001510Growth delay0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0001510HP:0001510Growth delay0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040281 - Very frequent276
HP:0001510HP:0001510Growth delay0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001510HP:0001510Growth delay0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0001510HP:0001510Growth delay0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001510HP:0001510Growth delay0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0001510HP:0001510Growth delay0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0001510HP:0001510Growth delay0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0001510HP:0001510Growth delay0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0001510HP:0001510Growth delay0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0001510HP:0001510Growth delay0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001510HP:0001510Growth delay0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0001510HP:0001510Growth delay0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosisHP:0040283 - Occasional10
HP:0001510HP:0001510Growth delay0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0001510HP:0001510Growth delay0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0001510HP:0001510Growth delay0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional5
HP:0001510HP:0001510Growth delay0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional76
HP:0001510HP:0001510Growth delay0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0001510HP:0001510Growth delay0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional
HP:0001510HP:0001510Growth delay0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0001510HP:0001510Growth delay0C18ORF32 CL E G H49766131690OMIM:619985
HP:0001510HP:0001510Growth delay0C1R CL E G H7151246ORPHA:75392Periodontal Ehlers-Danlos syndrome15
HP:0001510HP:0001510Growth delay0C1S CL E G H7161247ORPHA:75392Periodontal Ehlers-Danlos syndrome7
HP:0001510HP:0001510Growth delay0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001510HP:0001510Growth delay0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0001510HP:0001510Growth delay0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0001510HP:0001510Growth delay0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndrome8
HP:0001510HP:0001510Growth delay0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0001510HP:0001510Growth delay0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0001510HP:0001510Growth delay0CACNA1C CL E G H7751390OMIM:620029572
HP:0001510HP:0001510Growth delay0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0001510HP:0001510Growth delay0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0001510HP:0001510Growth delay0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001510HP:0001510Growth delay0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0001510HP:0001510Growth delay0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001510HP:0001510Growth delay0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0001510HP:0001510Growth delay0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0001510HP:0001510Growth delay0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0001510HP:0001510Growth delay0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0001510HP:0001510Growth delay0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001510HP:0001510Growth delay0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001510HP:0001510Growth delay0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001510HP:0001510Growth delay0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001510HP:0001510Growth delay0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001510HP:0001510Growth delay0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0001510HP:0001510Growth delay0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0001510HP:0001510Growth delay0CASR CL E G H8461514ORPHA:417Neonatal severe primary hyperparathyroidism272
HP:0001510HP:0001510Growth delay0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0001510HP:0001510Growth delay0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0001510HP:0001510Growth delay0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0001510HP:0001510Growth delay0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0001510HP:0001510Growth delay0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0001510HP:0001510Growth delay0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0001510HP:0001510Growth delay0CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001510HP:0001510Growth delay0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0001510HP:0001510Growth delay0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0001510HP:0001510Growth delay0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0001510HP:0001510Growth delay0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0001510HP:0001510Growth delay0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0001510HP:0001510Growth delay0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0001510HP:0001510Growth delay0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndrome7
HP:0001510HP:0001510Growth delay0CCNQ CL E G H9200228434OMIM:300707Toe syndactyly, telecanthus, and anogenital and renal malformations7
HP:0001510HP:0001510Growth delay0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0001510HP:0001510Growth delay0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0001510HP:0001510Growth delay0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0001510HP:0001510Growth delay0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0001510HP:0001510Growth delay0CD96 CL E G H1022516892OMIM:211750C syndrome83
HP:0001510HP:0001510Growth delay0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0001510HP:0001510Growth delay0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0001510HP:0001510Growth delay0CDC42BPB CL E G H95781738OMIM:619841
HP:0001510HP:0001510Growth delay0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0001510HP:0001510Growth delay0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0001510HP:0001510Growth delay0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0001510HP:0001510Growth delay0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 531
HP:0001510HP:0001510Growth delay0CDCA7 CL E G H8387914628ORPHA:2268ICF syndrome4
HP:0001510HP:0001510Growth delay0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0001510HP:0001510Growth delay0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0001510HP:0001510Growth delay0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0001510HP:0001510Growth delay0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degeneration87
HP:0001510HP:0001510Growth delay0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0001510HP:0001510Growth delay0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0001510HP:0001510Growth delay0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001510HP:0001510Growth delay0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001510HP:0001510Growth delay0CDK5RAP2 CL E G H5575518672ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent181
HP:0001510HP:0001510Growth delay0CDK5RAP2 CL E G H5575518672OMIM:604804Microcephaly 3, primary, autosomal recessive181
HP:0001510HP:0001510Growth delay0CDK6 CL E G H10211777ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent6
HP:0001510HP:0001510Growth delay0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0001510HP:0001510Growth delay0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0001510HP:0001510Growth delay0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndrome114
HP:0001510HP:0001510Growth delay0CDKN1C CL E G H10281786ORPHA:436144Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome114
HP:0001510HP:0001510Growth delay0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0001510HP:0001510Growth delay0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent200
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndrome200
HP:0001510HP:0001510Growth delay0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001510HP:0001510Growth delay0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0001510HP:0001510Growth delay0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 450
HP:0001510HP:0001510Growth delay0CEL CL E G H10561848ORPHA:552MODY25
HP:0001510HP:0001510Growth delay0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001510HP:0001510Growth delay0CENPE CL E G H10621856OMIM:616051Microcephaly 13, primary, autosomal recessive20
HP:0001510HP:0001510Growth delay0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0001510HP:0001510Growth delay0CENPJ CL E G H5583517272ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent161
HP:0001510HP:0001510Growth delay0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0001510HP:0001510Growth delay0CENPJ CL E G H5583517272OMIM:613676Seckel syndrome 4161
HP:0001510HP:0001510Growth delay0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001510HP:0001510Growth delay0CEP120 CL E G H15324126690ORPHA:474Jeune syndrome7
HP:0001510HP:0001510Growth delay0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0001510HP:0001510Growth delay0CEP135 CL E G H966229086ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent38
HP:0001510HP:0001510Growth delay0CEP152 CL E G H2299529298ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent146
HP:0001510HP:0001510Growth delay0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0001510HP:0001510Growth delay0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5146
HP:0001510HP:0001510Growth delay0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndrome34
HP:0001510HP:0001510Growth delay0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0001510HP:0001510Growth delay0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0001510HP:0001510Growth delay0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0001510HP:0001510Growth delay0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndrome342
HP:0001510HP:0001510Growth delay0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040283 - Occasional17
HP:0001510HP:0001510Growth delay0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0001510HP:0001510Growth delay0CEP63 CL E G H8025425815ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent31
HP:0001510HP:0001510Growth delay0CEP63 CL E G H8025425815OMIM:614728Seckel syndrome 631
HP:0001510HP:0001510Growth delay0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0001510HP:0001510Growth delay0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0001510HP:0001510Growth delay0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0001510HP:0001510Growth delay0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0001510HP:0001510Growth delay0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0001510HP:0001510Growth delay0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome2
HP:0001510HP:0001510Growth delay0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0001510HP:0001510Growth delay0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001510HP:0001510Growth delay0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0001510HP:0001510Growth delay0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0001510HP:0001510Growth delay0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0001510HP:0001510Growth delay0CHKA CL E G H11191937OMIM:620023
HP:0001510HP:0001510Growth delay0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0001510HP:0001510Growth delay0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0001510HP:0001510Growth delay0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0001510HP:0001510Growth delay0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0001510HP:0001510Growth delay0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndrome68
HP:0001510HP:0001510Growth delay0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0001510HP:0001510Growth delay0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0001510HP:0001510Growth delay0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1
HP:0001510HP:0001510Growth delay0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasia165
HP:0001510HP:0001510Growth delay0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001510HP:0001510Growth delay0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0001510HP:0001510Growth delay0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0001510HP:0001510Growth delay0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndrome3
HP:0001510HP:0001510Growth delay0CIT CL E G H111131985ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent15
HP:0001510HP:0001510Growth delay0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive15
HP:0001510HP:0001510Growth delay0CITED2 CL E G H103701987ORPHA:3303Tetralogy of Fallot5
HP:0001510HP:0001510Growth delay0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0001510HP:0001510Growth delay0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0001510HP:0001510Growth delay0CLCN5 CL E G H11842023OMIM:300009Dent disease 1112
HP:0001510HP:0001510Growth delay0CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive112
HP:0001510HP:0001510Growth delay0CLCN5 CL E G H11842023OMIM:308990Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis112
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosis102
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H11862025ORPHA:667Autosomal recessive malignant osteopetrosisHP:0040281 - Very frequent102
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0001510HP:0001510Growth delay0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0001510HP:0001510Growth delay0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0001510HP:0001510Growth delay0CLMP CL E G H7982724039ORPHA:2301Congenital short bowel syndrome7
HP:0001510HP:0001510Growth delay0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040282 - Frequent7
HP:0001510HP:0001510Growth delay0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0001510HP:0001510Growth delay0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001510HP:0001510Growth delay0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0001510HP:0001510Growth delay0CLPP CL E G H81922084OMIM:614129Perrault syndrome 313
HP:0001510HP:0001510Growth delay0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001510HP:0001510Growth delay0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0001510HP:0001510Growth delay0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0001510HP:0001510Growth delay0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0001510HP:0001510Growth delay0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0001510HP:0001510Growth delay0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001510HP:0001510Growth delay0COA3 CL E G H2895824990OMIM:619058MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN142
HP:0001510HP:0001510Growth delay0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0001510HP:0001510Growth delay0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001510HP:0001510Growth delay0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001510HP:0001510Growth delay0COG4 CL E G H2583918620ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type67
HP:0001510HP:0001510Growth delay0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome67
HP:0001510HP:0001510Growth delay0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001510HP:0001510Growth delay0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001510HP:0001510Growth delay0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001510HP:0001510Growth delay0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001510HP:0001510Growth delay0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001510HP:0001510Growth delay0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0001510HP:0001510Growth delay0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid type79
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndrome215
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0001510HP:0001510Growth delay0COL11A1 CL E G H13012186ORPHA:560Marshall syndrome215
HP:0001510HP:0001510Growth delay0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0001510HP:0001510Growth delay0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0001510HP:0001510Growth delay0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0001510HP:0001510Growth delay0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197OMIM:619115COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1373
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA373
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III373
HP:0001510HP:0001510Growth delay0COL1A1 CL E G H12772197OMIM:166220Osteogenesis imperfecta, type IV373
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198OMIM:619120COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2243
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA243
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III243
HP:0001510HP:0001510Growth delay0COL1A2 CL E G H12782198OMIM:166220Osteogenesis imperfecta, type IV243
HP:0001510HP:0001510Growth delay0COL27A1 CL E G H8530122986OMIM:615155Steel syndrome1
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:85198Dysspondyloenchondromatosis284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:2380Legg-Calvé-Perthes disease284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:150600Legg-Calve-Perthes disease284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040283 - Occasional284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:604864Osteoarthritis with mild chondrodysplasia284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040281 - Very frequent284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0001510HP:0001510Growth delay0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome284
HP:0001510HP:0001510Growth delay0COL3A1 CL E G H12812201ORPHA:2500Acrogeria749
HP:0001510HP:0001510Growth delay0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0001510HP:0001510Growth delay0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0001510HP:0001510Growth delay0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0001510HP:0001510Growth delay0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I660
HP:0001510HP:0001510Growth delay0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040281 - Very frequent263
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040281 - Very frequent263
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040283 - Occasional263
HP:0001510HP:0001510Growth delay0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndrome110
HP:0001510HP:0001510Growth delay0COL9A1 CL E G H12972217ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0001510HP:0001510Growth delay0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0001510HP:0001510Growth delay0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndrome110
HP:0001510HP:0001510Growth delay0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0001510HP:0001510Growth delay0COL9A2 CL E G H12982218ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly110
HP:0001510HP:0001510Growth delay0COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V110
HP:0001510HP:0001510Growth delay0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndrome137
HP:0001510HP:0001510Growth delay0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0001510HP:0001510Growth delay0COL9A3 CL E G H12992219ORPHA:166002Multiple epiphyseal dysplasia due to collagen 9 anomaly137
HP:0001510HP:0001510Growth delay0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0001510HP:0001510Growth delay0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0001510HP:0001510Growth delay0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0001510HP:0001510Growth delay0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0001510HP:0001510Growth delay0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0001510HP:0001510Growth delay0COMP CL E G H13112227ORPHA:93308Multiple epiphyseal dysplasia type 189
HP:0001510HP:0001510Growth delay0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0001510HP:0001510Growth delay0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0001510HP:0001510Growth delay0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0001510HP:0001510Growth delay0COPB2 CL E G H92762232ORPHA:2512Autosomal recessive primary microcephalyHP:0040281 - Very frequent
HP:0001510HP:0001510Growth delay0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0001510HP:0001510Growth delay0COQ4 CL E G H5111719693OMIM:616276Coenzyme Q10 deficiency, primary, 724
HP:0001510HP:0001510Growth delay0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 81
HP:0001510HP:0001510Growth delay0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 544
HP:0001510HP:0001510Growth delay0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0001510HP:0001510Growth delay0COX1 CL E G H45127419ORPHA:550MELAS
HP:0001510HP:0001510Growth delay0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001510HP:0001510Growth delay0COX2 CL E G H45137421ORPHA:550MELAS
HP:0001510HP:0001510Growth delay0COX3 CL E G H45147422ORPHA:550MELAS
HP:0001510HP:0001510Growth delay0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001510HP:0001510Growth delay0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001510HP:0001510Growth delay0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 26
HP:0001510HP:0001510Growth delay0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001510HP:0001510Growth delay0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0001510HP:0001510Growth delay0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0001510HP:0001510Growth delay0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0001510HP:0001510Growth delay0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001510HP:0001510Growth delay0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0001510HP:0001510Growth delay0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0001510HP:0001510Growth delay0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001510HP:0001510Growth delay0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0001510HP:0001510Growth delay0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001510HP:0001510Growth delay0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0001510HP:0001510Growth delay0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0001510HP:0001510Growth delay0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0001510HP:0001510Growth delay0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0001510HP:0001510Growth delay0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII124
HP:0001510HP:0001510Growth delay0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0001510HP:0001510Growth delay0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001510HP:0001510Growth delay0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0001510HP:0001510Growth delay0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001510HP:0001510Growth delay0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0001510HP:0001510Growth delay0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0001510HP:0001510Growth delay0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0001510HP:0001510Growth delay0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0001510HP:0001510Growth delay0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0001510HP:0001510Growth delay0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0001510HP:0001510Growth delay0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0001510HP:0001510Growth delay0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0001510HP:0001510Growth delay0CTNNBL1 CL E G H5625915879OMIM:619846
HP:0001510HP:0001510Growth delay0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0001510HP:0001510Growth delay0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001510HP:0001510Growth delay0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0001510HP:0001510Growth delay0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040283 - Occasional178
HP:0001510HP:0001510Growth delay0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0001510HP:0001510Growth delay0CTSK CL E G H15132536OMIM:265800PYCNODYSOSTOSIS39
HP:0001510HP:0001510Growth delay0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0001510HP:0001510Growth delay0CTU2 CL E G H34818028005OMIM:618142Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1
HP:0001510HP:0001510Growth delay0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001510HP:0001510Growth delay0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0001510HP:0001510Growth delay0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0001510HP:0001510Growth delay0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0001510HP:0001510Growth delay0CUX1 CL E G H15232557OMIM:618330Global developmental delay with or without impaired intellectual development1
HP:0001510HP:0001510Growth delay0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0001510HP:0001510Growth delay0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001510HP:0001510Growth delay0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0001510HP:0001510Growth delay0CYB5R3 CL E G H17272873OMIM:250800Methemoglobinemia due to deficiency of methemoglobin reductase.24
HP:0001510HP:0001510Growth delay0CYBC1 CL E G H7941528672OMIM:618935GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001510HP:0001510Growth delay0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001510HP:0001510Growth delay0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0001510HP:0001510Growth delay0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0001510HP:0001510Growth delay0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0001510HP:0001510Growth delay0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0001510HP:0001510Growth delay0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0001510HP:0001510Growth delay0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0001510HP:0001510Growth delay0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0001510HP:0001510Growth delay0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0001510HP:0001510Growth delay0CYP19A1 CL E G H15882594OMIM:139300Aromatase excess syndrome60
HP:0001510HP:0001510Growth delay0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0001510HP:0001510Growth delay0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001510HP:0001510Growth delay0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0001510HP:0001510Growth delay0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0001510HP:0001510Growth delay0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0001510HP:0001510Growth delay0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0001510HP:0001510Growth delay0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0001510HP:0001510Growth delay0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0001510HP:0001510Growth delay0DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0001510HP:0001510Growth delay0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001510HP:0001510Growth delay0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0001510HP:0001510Growth delay0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0001510HP:0001510Growth delay0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0001510HP:0001510Growth delay0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1145
HP:0001510HP:0001510Growth delay0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0001510HP:0001510Growth delay0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0001510HP:0001510Growth delay0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0001510HP:0001510Growth delay0DDOST CL E G H16502728ORPHA:300536DDOST-CDG62
HP:0001510HP:0001510Growth delay0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0001510HP:0001510Growth delay0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001510HP:0001510Growth delay0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0001510HP:0001510Growth delay0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome13
HP:0001510HP:0001510Growth delay0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001510HP:0001510Growth delay0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001510HP:0001510Growth delay0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0001510HP:0001510Growth delay0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0001510HP:0001510Growth delay0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0001510HP:0001510Growth delay0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001510HP:0001510Growth delay0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001510HP:0001510Growth delay0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0001510HP:0001510Growth delay0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001510HP:0001510Growth delay0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0001510HP:0001510Growth delay0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001510HP:0001510Growth delay0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0001510HP:0001510Growth delay0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 5947
HP:0001510HP:0001510Growth delay0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0001510HP:0001510Growth delay0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001510HP:0001510Growth delay0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0001510HP:0001510Growth delay0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0001510HP:0001510Growth delay0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001510HP:0001510Growth delay0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0001510HP:0001510Growth delay0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0001510HP:0001510Growth delay0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent22
HP:0001510HP:0001510Growth delay0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001510HP:0001510Growth delay0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0001510HP:0001510Growth delay0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0001510HP:0001510Growth delay0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion1
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation1
HP:0001510HP:0001510Growth delay0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletion1
HP:0001510HP:0001510Growth delay0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001510HP:0001510Growth delay0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0001510HP:0001510Growth delay0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0001510HP:0001510Growth delay0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent3
HP:0001510HP:0001510Growth delay0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001510HP:0001510Growth delay0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0001510HP:0001510Growth delay0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0001510HP:0001510Growth delay0DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing loss3
HP:0001510HP:0001510Growth delay0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0001510HP:0001510Growth delay0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0001510HP:0001510Growth delay0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome3
HP:0001510HP:0001510Growth delay0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0001510HP:0001510Growth delay0DNA2 CL E G H17632939OMIM:615807Seckel syndrome 841
HP:0001510HP:0001510Growth delay0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0001510HP:0001510Growth delay0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040281 - Very frequent25
HP:0001510HP:0001510Growth delay0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0001510HP:0001510Growth delay0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0001510HP:0001510Growth delay0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0001510HP:0001510Growth delay0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0001510HP:0001510Growth delay0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3
HP:0001510HP:0001510Growth delay0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0001510HP:0001510Growth delay0DNASE2 CL E G H17772960OMIM:619858
HP:0001510HP:0001510Growth delay0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0001510HP:0001510Growth delay0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0001510HP:0001510Growth delay0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0001510HP:0001510Growth delay0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0001510HP:0001510Growth delay0DNMT3B CL E G H17892979ORPHA:2268ICF syndrome79
HP:0001510HP:0001510Growth delay0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome79
HP:0001510HP:0001510Growth delay0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0001510HP:0001510Growth delay0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0001510HP:0001510Growth delay0DOCK8 CL E G H8170419191OMIM:243700Hyper-Ige recurrent infection syndrome, autosomal recessive217
HP:0001510HP:0001510Growth delay0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequence91
HP:0001510HP:0001510Growth delay0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001510HP:0001510Growth delay0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities9
HP:0001510HP:0001510Growth delay0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0001510HP:0001510Growth delay0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0001510HP:0001510Growth delay0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0001510HP:0001510Growth delay0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0001510HP:0001510Growth delay0DPH1 CL E G H18013003OMIM:616901Developmental delay with short stature, dysmorphic features, and sparse hair3
HP:0001510HP:0001510Growth delay0DPH2 CL E G H18023004OMIM:620062
HP:0001510HP:0001510Growth delay0DPH5 CL E G H5161124270OMIM:620070
HP:0001510HP:0001510Growth delay0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephaly18
HP:0001510HP:0001510Growth delay0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0001510HP:0001510Growth delay0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001510HP:0001510Growth delay0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0001510HP:0001510Growth delay0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001510HP:0001510Growth delay0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0001510HP:0001510Growth delay0DSP CL E G H18323052ORPHA:158687Lethal acantholytic erosive disorder747
HP:0001510HP:0001510Growth delay0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI.108
HP:0001510HP:0001510Growth delay0DSTYK CL E G H2577829043ORPHA:101003Autosomal recessive spastic paraplegia type 2313
HP:0001510HP:0001510Growth delay0DTYMK CL E G H18413061OMIM:619847
HP:0001510HP:0001510Growth delay0DUOXA2 CL E G H40575332698OMIM:274900Thyroid hormonogenesis, genetic defect in, 5.11
HP:0001510HP:0001510Growth delay0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0001510HP:0001510Growth delay0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0001510HP:0001510Growth delay0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0001510HP:0001510Growth delay0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0001510HP:0001510Growth delay0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 214
HP:0001510HP:0001510Growth delay0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0001510HP:0001510Growth delay0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0001510HP:0001510Growth delay0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0001510HP:0001510Growth delay0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001510HP:0001510Growth delay0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 165
HP:0001510HP:0001510Growth delay0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001510HP:0001510Growth delay0DYNC2H1 CL E G H796592962OMIM:613091Asphyxiating thoracic dystrophy 3304
HP:0001510HP:0001510Growth delay0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndrome304
HP:0001510HP:0001510Growth delay0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0001510HP:0001510Growth delay0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndrome
HP:0001510HP:0001510Growth delay0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI
HP:0001510HP:0001510Growth delay0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001510HP:0001510Growth delay0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndrome
HP:0001510HP:0001510Growth delay0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001510HP:0001510Growth delay0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0001510HP:0001510Growth delay0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndrome7
HP:0001510HP:0001510Growth delay0DYNC2LI1 CL E G H5162624595OMIM:617088Short-rib thoracic dysplasia 15 with polydactyly7
HP:0001510HP:0001510Growth delay0DYNLT2B CL E G H25575828482OMIM:617405Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0001510HP:0001510Growth delay0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0001510HP:0001510Growth delay0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0001510HP:0001510Growth delay0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001510HP:0001510Growth delay0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0001510HP:0001510Growth delay0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001510HP:0001510Growth delay0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001510HP:0001510Growth delay0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001510HP:0001510Growth delay0EBP