Human Phenotype Ontology 
Grandparent Node:
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Growth abnormality (HP:0001507)help
Parent Node:
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Growth delay (HP:0001510)help
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Postnatal growth retardation (HP:0008897)help
Term ID: 8897
Name: Postnatal growth retardation
Synonym: Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure
Definition: Slow or limited growth after birth.
Comments:
Reference: HP:0008897
Genes and Diseases:
 
       Child Nodes:
........expandMild postnatal growth retardation (HP:0001530) help
........expandSevere postnatal growth retardation (HP:0008850) help
........expandModerate postnatal growth retardation (HP:0008855) help

 Sister Nodes: 
..expandAbsent pubertal growth spurt (HP:0031087) help
..expandDelayed puberty (HP:0000823) help
..expandIntrauterine growth retardation (HP:0001511) help
..expandShort stature (HP:0004322) 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:0008897HP:0008897Postnatal growth retardation0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0008897HP:0008897Postnatal growth retardation0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndrome1
HP:0008897HP:0008897Postnatal growth retardation0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0008897HP:0008897Postnatal growth retardation0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0008897HP:0008897Postnatal growth retardation0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3.89
HP:0008897HP:0008897Postnatal growth retardation0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0008897HP:0008897Postnatal growth retardation0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0008897HP:0008897Postnatal growth retardation0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0008897HP:0008897Postnatal growth retardation0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0008897HP:0008897Postnatal growth retardation0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0008897HP:0008897Postnatal growth retardation0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0008897HP:0008897Postnatal growth retardation0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0008897HP:0008897Postnatal growth retardation0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0008897HP:0008897Postnatal growth retardation0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0008897HP:0008897Postnatal growth retardation0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0008897HP:0008897Postnatal growth retardation0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0008897HP:0008897Postnatal growth retardation0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0008897HP:0008897Postnatal growth retardation0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0008897HP:0008897Postnatal growth retardation0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0008897HP:0008897Postnatal growth retardation0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008897HP:0008897Postnatal growth retardation0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0008897HP:0008897Postnatal growth retardation0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0008897HP:0008897Postnatal growth retardation0BNC2 CL E G H5479630988ORPHA:93110Posterior urethral valveHP:0040283 - Occasional22
HP:0008897HP:0008897Postnatal growth retardation0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare276
HP:0008897HP:0008897Postnatal growth retardation0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0008897HP:0008897Postnatal growth retardation0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0008897HP:0008897Postnatal growth retardation0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0008897HP:0008897Postnatal growth retardation0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0008897HP:0008897Postnatal growth retardation0CACNA1C CL E G H7751390OMIM:620029572
HP:0008897HP:0008897Postnatal growth retardation0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0008897HP:0008897Postnatal growth retardation0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome147
HP:0008897HP:0008897Postnatal growth retardation0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndrome147
HP:0008897HP:0008897Postnatal growth retardation0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0008897HP:0008897Postnatal growth retardation0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0008897HP:0008897Postnatal growth retardation0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0008897HP:0008897Postnatal growth retardation0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia86
HP:0008897HP:0008897Postnatal growth retardation0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040282 - Frequent6
HP:0008897HP:0008897Postnatal growth retardation0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0008897HP:0008897Postnatal growth retardation0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0008897HP:0008897Postnatal growth retardation0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0008897HP:0008897Postnatal growth retardation0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040283 - Occasional2
HP:0008897HP:0008897Postnatal growth retardation0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0008897HP:0008897Postnatal growth retardation0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0008897HP:0008897Postnatal growth retardation0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0008897HP:0008897Postnatal growth retardation0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0008897HP:0008897Postnatal growth retardation0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0008897HP:0008897Postnatal growth retardation0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0008897HP:0008897Postnatal growth retardation0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0008897HP:0008897Postnatal growth retardation0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0008897HP:0008897Postnatal growth retardation0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0008897HP:0008897Postnatal growth retardation0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0008897HP:0008897Postnatal growth retardation0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0008897HP:0008897Postnatal growth retardation0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008897HP:0008897Postnatal growth retardation0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1.291
HP:0008897HP:0008897Postnatal growth retardation0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040281 - Very frequent291
HP:0008897HP:0008897Postnatal growth retardation0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008897HP:0008897Postnatal growth retardation0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0008897HP:0008897Postnatal growth retardation0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040284 - Very rare88
HP:0008897HP:0008897Postnatal growth retardation0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0008897HP:0008897Postnatal growth retardation0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040281 - Very frequent73
HP:0008897HP:0008897Postnatal growth retardation0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0008897HP:0008897Postnatal growth retardation0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0008897HP:0008897Postnatal growth retardation0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0008897HP:0008897Postnatal growth retardation0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0008897HP:0008897Postnatal growth retardation0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0008897HP:0008897Postnatal growth retardation0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0008897HP:0008897Postnatal growth retardation0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0008897HP:0008897Postnatal growth retardation0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0008897HP:0008897Postnatal growth retardation0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0008897HP:0008897Postnatal growth retardation0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008897HP:0008897Postnatal growth retardation0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0008897HP:0008897Postnatal growth retardation0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndrome2
HP:0008897HP:0008897Postnatal growth retardation0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1.250
HP:0008897HP:0008897Postnatal growth retardation0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040281 - Very frequent250
HP:0008897HP:0008897Postnatal growth retardation0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare6
HP:0008897HP:0008897Postnatal growth retardation0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008897HP:0008897Postnatal growth retardation0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0008897HP:0008897Postnatal growth retardation0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0008897HP:0008897Postnatal growth retardation0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0008897HP:0008897Postnatal growth retardation0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0008897HP:0008897Postnatal growth retardation0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0008897HP:0008897Postnatal growth retardation0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0008897HP:0008897Postnatal growth retardation0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0008897HP:0008897Postnatal growth retardation0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040281 - Very frequent92
HP:0008897HP:0008897Postnatal growth retardation0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0008897HP:0008897Postnatal growth retardation0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0008897HP:0008897Postnatal growth retardation0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndrome114
HP:0008897HP:0008897Postnatal growth retardation0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0008897HP:0008897Postnatal growth retardation0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008897HP:0008897Postnatal growth retardation0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0008897HP:0008897Postnatal growth retardation0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0008897HP:0008897Postnatal growth retardation0FLNC CL E G H23183756ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional197
HP:0008897HP:0008897Postnatal growth retardation0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome83
HP:0008897HP:0008897Postnatal growth retardation0GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial.37
HP:0008897HP:0008897Postnatal growth retardation0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0008897HP:0008897Postnatal growth retardation0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008897HP:0008897Postnatal growth retardation0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008897HP:0008897Postnatal growth retardation0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0008897HP:0008897Postnatal growth retardation0GNA11 CL E G H27674379OMIM:615361Hypocalcemia, autosomal dominant 2HP:0040283 - Occasional16
HP:0008897HP:0008897Postnatal growth retardation0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0008897HP:0008897Postnatal growth retardation0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0008897HP:0008897Postnatal growth retardation0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040281 - Very frequent
HP:0008897HP:0008897Postnatal growth retardation0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0008897HP:0008897Postnatal growth retardation0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare5
HP:0008897HP:0008897Postnatal growth retardation0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0008897HP:0008897Postnatal growth retardation0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0008897HP:0008897Postnatal growth retardation0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0008897HP:0008897Postnatal growth retardation0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0008897HP:0008897Postnatal growth retardation0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0008897HP:0008897Postnatal growth retardation0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0008897HP:0008897Postnatal growth retardation0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0008897HP:0008897Postnatal growth retardation0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0008897HP:0008897Postnatal growth retardation0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0008897HP:0008897Postnatal growth retardation0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0008897HP:0008897Postnatal growth retardation0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0008897HP:0008897Postnatal growth retardation0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0008897HP:0008897Postnatal growth retardation0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0008897HP:0008897Postnatal growth retardation0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0008897HP:0008897Postnatal growth retardation0IGFALS CL E G H34835468OMIM:615961ACID-LABILE SUBUNIT DEFICIENCY; ACLSD53
HP:0008897HP:0008897Postnatal growth retardation0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0008897HP:0008897Postnatal growth retardation0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0008897HP:0008897Postnatal growth retardation0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0008897HP:0008897Postnatal growth retardation0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040281 - Very frequent229
HP:0008897HP:0008897Postnatal growth retardation0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0008897HP:0008897Postnatal growth retardation0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0008897HP:0008897Postnatal growth retardation0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0008897HP:0008897Postnatal growth retardation0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0008897HP:0008897Postnatal growth retardation0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0008897HP:0008897Postnatal growth retardation0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0008897HP:0008897Postnatal growth retardation0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0KIF20A CL E G H101129787ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional
HP:0008897HP:0008897Postnatal growth retardation0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome.167
HP:0008897HP:0008897Postnatal growth retardation0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0008897HP:0008897Postnatal growth retardation0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0008897HP:0008897Postnatal growth retardation0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040281 - Very frequent16
HP:0008897HP:0008897Postnatal growth retardation0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008897HP:0008897Postnatal growth retardation0LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 443
HP:0008897HP:0008897Postnatal growth retardation0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0008897HP:0008897Postnatal growth retardation0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0008897HP:0008897Postnatal growth retardation0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040281 - Very frequent21
HP:0008897HP:0008897Postnatal growth retardation0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0008897HP:0008897Postnatal growth retardation0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0008897HP:0008897Postnatal growth retardation0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0008897HP:0008897Postnatal growth retardation0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0008897HP:0008897Postnatal growth retardation0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0008897HP:0008897Postnatal growth retardation0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0008897HP:0008897Postnatal growth retardation0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0008897HP:0008897Postnatal growth retardation0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040282 - Frequent88
HP:0008897HP:0008897Postnatal growth retardation0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0008897HP:0008897Postnatal growth retardation0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0008897HP:0008897Postnatal growth retardation0MYPN CL E G H8466523246ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional217
HP:0008897HP:0008897Postnatal growth retardation0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0008897HP:0008897Postnatal growth retardation0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0008897HP:0008897Postnatal growth retardation0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0008897HP:0008897Postnatal growth retardation0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0008897HP:0008897Postnatal growth retardation0NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040281 - Very frequent96
HP:0008897HP:0008897Postnatal growth retardation0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0008897HP:0008897Postnatal growth retardation0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0008897HP:0008897Postnatal growth retardation0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0008897HP:0008897Postnatal growth retardation0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0008897HP:0008897Postnatal growth retardation0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008897HP:0008897Postnatal growth retardation0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0008897HP:0008897Postnatal growth retardation0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0008897HP:0008897Postnatal growth retardation0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0008897HP:0008897Postnatal growth retardation0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0008897HP:0008897Postnatal growth retardation0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0008897HP:0008897Postnatal growth retardation0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0008897HP:0008897Postnatal growth retardation0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040282 - Frequent113
HP:0008897HP:0008897Postnatal growth retardation0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0008897HP:0008897Postnatal growth retardation0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0008897HP:0008897Postnatal growth retardation0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0008897HP:0008897Postnatal growth retardation0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0008897HP:0008897Postnatal growth retardation0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0008897HP:0008897Postnatal growth retardation0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0008897HP:0008897Postnatal growth retardation0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0008897HP:0008897Postnatal growth retardation0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0008897HP:0008897Postnatal growth retardation0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0008897HP:0008897Postnatal growth retardation0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0008897HP:0008897Postnatal growth retardation0PRIM1 CL E G H55579369OMIM:620005
HP:0008897HP:0008897Postnatal growth retardation0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0008897HP:0008897Postnatal growth retardation0PSPH CL E G H57239577ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile formHP:0040282 - Frequent54
HP:0008897HP:0008897Postnatal growth retardation0PSPH CL E G H57239577OMIM:614023Phosphoserine phosphatase deficiency.54
HP:0008897HP:0008897Postnatal growth retardation0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0008897HP:0008897Postnatal growth retardation0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0008897HP:0008897Postnatal growth retardation0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0008897HP:0008897Postnatal growth retardation0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0008897HP:0008897Postnatal growth retardation0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0008897HP:0008897Postnatal growth retardation0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI.71
HP:0008897HP:0008897Postnatal growth retardation0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0008897HP:0008897Postnatal growth retardation0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0008897HP:0008897Postnatal growth retardation0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0008897HP:0008897Postnatal growth retardation0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040282 - Frequent16
HP:0008897HP:0008897Postnatal growth retardation0RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V.
HP:0008897HP:0008897Postnatal growth retardation0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008897HP:0008897Postnatal growth retardation0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0008897HP:0008897Postnatal growth retardation0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0008897HP:0008897Postnatal growth retardation0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome10
HP:0008897HP:0008897Postnatal growth retardation0RPL13 CL E G H613710303OMIM:618728SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0008897HP:0008897Postnatal growth retardation0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent
HP:0008897HP:0008897Postnatal growth retardation0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0008897HP:0008897Postnatal growth retardation0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0008897HP:0008897Postnatal growth retardation0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0008897HP:0008897Postnatal growth retardation0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0008897HP:0008897Postnatal growth retardation0SCUBE3 CL E G H22266313655OMIM:619184SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC21
HP:0008897HP:0008897Postnatal growth retardation0SEC24D CL E G H987110706OMIM:616294Cole-Carpenter syndrome 2.5
HP:0008897HP:0008897Postnatal growth retardation0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0008897HP:0008897Postnatal growth retardation0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0008897HP:0008897Postnatal growth retardation0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0008897HP:0008897Postnatal growth retardation0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040282 - Frequent9
HP:0008897HP:0008897Postnatal growth retardation0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0008897HP:0008897Postnatal growth retardation0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040282 - Frequent255
HP:0008897HP:0008897Postnatal growth retardation0SLC5A2 CL E G H652411037ORPHA:69076Familial renal glucosuria41
HP:0008897HP:0008897Postnatal growth retardation0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0008897HP:0008897Postnatal growth retardation0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0008897HP:0008897Postnatal growth retardation0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0008897HP:0008897Postnatal growth retardation0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0008897HP:0008897Postnatal growth retardation0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0008897HP:0008897Postnatal growth retardation0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0008897HP:0008897Postnatal growth retardation0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0008897HP:0008897Postnatal growth retardation0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0008897HP:0008897Postnatal growth retardation0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0008897HP:0008897Postnatal growth retardation0SNRPB CL E G H662811153OMIM:117650Cerebrocostomandibular syndrome.6
HP:0008897HP:0008897Postnatal growth retardation0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0008897HP:0008897Postnatal growth retardation0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0008897HP:0008897Postnatal growth retardation0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0008897HP:0008897Postnatal growth retardation0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare228
HP:0008897HP:0008897Postnatal growth retardation0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare156
HP:0008897HP:0008897Postnatal growth retardation0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0008897HP:0008897Postnatal growth retardation0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0008897HP:0008897Postnatal growth retardation0STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0008897HP:0008897Postnatal growth retardation0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0008897HP:0008897Postnatal growth retardation0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0008897HP:0008897Postnatal growth retardation0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0008897HP:0008897Postnatal growth retardation0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0008897HP:0008897Postnatal growth retardation0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52
HP:0008897HP:0008897Postnatal growth retardation0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0008897HP:0008897Postnatal growth retardation0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0008897HP:0008897Postnatal growth retardation0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0008897HP:0008897Postnatal growth retardation0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008897HP:0008897Postnatal growth retardation0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0008897HP:0008897Postnatal growth retardation0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0008897HP:0008897Postnatal growth retardation0TNNI3 CL E G H713711947ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional180
HP:0008897HP:0008897Postnatal growth retardation0TNNT2 CL E G H713911949ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040283 - Occasional248
HP:0008897HP:0008897Postnatal growth retardation0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0008897HP:0008897Postnatal growth retardation0TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 49
HP:0008897HP:0008897Postnatal growth retardation0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0008897HP:0008897Postnatal growth retardation0UFSP2 CL E G H5532525640OMIM:6200282
HP:0008897HP:0008897Postnatal growth retardation0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0008897HP:0008897Postnatal growth retardation0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0008897HP:0008897Postnatal growth retardation0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0008897HP:0008897Postnatal growth retardation0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndrome389
HP:0008897HP:0008897Postnatal growth retardation0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0008897HP:0001530Mild postnatal growth retardation1ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0008897HP:0008850Severe postnatal growth retardation1ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0001530Mild postnatal growth retardation1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0008850Severe postnatal growth retardation1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040281 - Very frequent314
HP:0008897HP:0008850Severe postnatal growth retardation1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0008897HP:0001530Mild postnatal growth retardation1CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0008897HP:0001530Mild postnatal growth retardation1CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0008897HP:0008850Severe postnatal growth retardation1CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0008897HP:0001530Mild postnatal growth retardation1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0008897HP:0001530Mild postnatal growth retardation1CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0008897HP:0008850Severe postnatal growth retardation1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008897HP:0008850Severe postnatal growth retardation1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008897HP:0008850Severe postnatal growth retardation1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008897HP:0008850Severe postnatal growth retardation1EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0008897HP:0001530Mild postnatal growth retardation1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0008897HP:0008850Severe postnatal growth retardation1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0008897HP:0001530Mild postnatal growth retardation1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0008897HP:0001530Mild postnatal growth retardation1FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0008897HP:0008850Severe postnatal growth retardation1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008897HP:0008850Severe postnatal growth retardation1GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040284 - Very rare83
HP:0008897HP:0008850Severe postnatal growth retardation1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0008897HP:0008850Severe postnatal growth retardation1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0008897HP:0008850Severe postnatal growth retardation1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0008897HP:0001530Mild postnatal growth retardation1IGFALS CL E G H34835468OMIM:615961ACID-LABILE SUBUNIT DEFICIENCY; ACLSD53
HP:0008897HP:0008850Severe postnatal growth retardation1IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0008897HP:0001530Mild postnatal growth retardation1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0008897HP:0008850Severe postnatal growth retardation1IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0001530Mild postnatal growth retardation1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0008850Severe postnatal growth retardation1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0008897HP:0008850Severe postnatal growth retardation1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008897HP:0008850Severe postnatal growth retardation1LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 4.43
HP:0008897HP:0008850Severe postnatal growth retardation1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0008897HP:0008850Severe postnatal growth retardation1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0008897HP:0008850Severe postnatal growth retardation1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008897HP:0008850Severe postnatal growth retardation1POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 1.36
HP:0008897HP:0008850Severe postnatal growth retardation1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0008897HP:0008850Severe postnatal growth retardation1PRIM1 CL E G H55579369OMIM:620005
HP:0008897HP:0001530Mild postnatal growth retardation1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0008897HP:0008850Severe postnatal growth retardation1PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0001530Mild postnatal growth retardation1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0008897HP:0008850Severe postnatal growth retardation1PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0008897HP:0001530Mild postnatal growth retardation1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0008897HP:0001530Mild postnatal growth retardation1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0008897HP:0008850Severe postnatal growth retardation1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0008897HP:0008850Severe postnatal growth retardation1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008897HP:0008850Severe postnatal growth retardation1RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040280 - Obligate10
HP:0008897HP:0008850Severe postnatal growth retardation1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0008897HP:0008850Severe postnatal growth retardation1SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0008897HP:0008855Moderate postnatal growth retardation1SLC5A2 CL E G H652411037ORPHA:69076Familial renal glucosuriaHP:0040283 - Occasional41
HP:0008897HP:0008850Severe postnatal growth retardation1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0008897HP:0008850Severe postnatal growth retardation1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0008897HP:0008850Severe postnatal growth retardation1STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0008897HP:0001530Mild postnatal growth retardation1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0008897HP:0008850Severe postnatal growth retardation1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0008897HP:0008850Severe postnatal growth retardation1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0008897HP:0008850Severe postnatal growth retardation1TSHB CL E G H725212372OMIM:275100Hypothyroidism, congenital, nongoitrous, 4.9
HP:0008897HP:0008850Severe postnatal growth retardation1WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040283 - Occasional389


Genes (214) :ACTB ADAMTS3 AKR1D1 ALDH18A1 ANKRD17 ANKRD55 ARG1 ARID1A ARID1B ARID2 ARSL ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX B3GALT6 B3GLCT BLM BNC2 BRAF BRD4 BRIP1 BUB1B CACNA1C CASK CCBE1 CCDC22 CD247 CDAN1 CDC42 CDK10 CDKN1C CHD1 CHD7 CKAP2L COG1 COG4 COG7 COLEC10 COLEC11 COQ7 CPLX1 CREBBP CTBP1 CTC1 CTNNB1 CUL7 CYP11B2 CYP27B1 CYP2R1 DCX DHODH DLK1 DMXL2 DNAJC19 DPF2 DYM EBP ELN EMG1 EP300 EPB41 EPG5 ERCC4 ERCC6 ERCC8 ESCO2 FAM111A FAT4 FBLN5 FGFRL1 FIG4 FLNA FLNC GATA3 GHSR GINS1 GJB2 GJB6 GM2A GNA11 GNPTAB GRB10 GUSB GYPC H19 HDAC8 HLA-DQA1 HLA-DQB1 HMGA2 HYMAI IARS1 IGF1 IGF2 IGFALS IL2RA IL2RB INSR KANSL1 KCNJ6 KDM6A KIF15 KIF20A KIF7 KMT2A KMT2D LARP7 LETM1 LHX4 LIG4 LMNA MAF MAP2K1 MASP1 MBD5 MCM4 MCTP2 MEG3 MGAT2 MTRR MTX2 MYH3 MYPN NAA10 NALCN NBAS NDE1 NEXMIF NIN NIPBL NSD2 NSUN2 PALB2 PAPPA2 PCNT PCYT1A PDE4D PHKB PHKG2 PIEZO2 PLAG1 PLAGL1 PLOD3 PNPLA8 POU1F1 POU3F4 PPP1R15B PRIM1 PRKAR1A PSPH PTPN11 PTPN2 PTPN22 PTRH2 PYGL RAB18 RAB3GAP2 RAD21 RERE RNPC3 RNU4ATAC RPL10 RPL13 RTEL1 RTL1 RYR1 SALL4 SATB2 SCUBE3 SEC24D SEMA3E SETBP1 SHPK SIN3A SIX6 SLC2A1 SLC5A2 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMOC1 SNRPB SOX11 SOX2 SOX4 SPTA1 SPTB STAT4 STAT5B SYNE1 TAF1 TBC1D20 TBCE TCF4 TFAP2A TGDS TMCO1 TNNI3 TNNT2 TRMT10A TSHB TUBB3 UFSP2 VAC14 VPS35L WASHC5 WFS1 XYLT1

Diseases (197) :OMIM:243310 ORPHA:2136 ORPHA:79303 ORPHA:90348 OMIM:616603 OMIM:619504 ORPHA:85410 ORPHA:85408 OMIM:207800 ORPHA:1465 OMIM:135900 ORPHA:79345 ORPHA:357074 ORPHA:2834 OMIM:210600 OMIM:301040 ORPHA:536467 ORPHA:709 OMIM:261540 ORPHA:125 OMIM:210900 ORPHA:93110 ORPHA:54595 OMIM:163950 ORPHA:199 OMIM:609054 OMIM:257300 OMIM:620029 OMIM:300749 OMIM:235510 ORPHA:7 OMIM:224120 ORPHA:487796 OMIM:617694 OMIM:614732 ORPHA:397590 ORPHA:529965 OMIM:214800 ORPHA:138 OMIM:272440 ORPHA:263508 OMIM:611209 OMIM:618150 ORPHA:79333 ORPHA:293843 OMIM:265050 OMIM:616733 OMIM:194190 OMIM:180849 ORPHA:353277 OMIM:612199 OMIM:273750 ORPHA:556030 ORPHA:289157 OMIM:300067 OMIM:263750 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:96184 ORPHA:254531 ORPHA:254525 OMIM:616113 ORPHA:453533 OMIM:610198 OMIM:223800 OMIM:302960 ORPHA:35173 ORPHA:1270 ORPHA:353284 ORPHA:288 OMIM:242840 ORPHA:90321 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:3103 OMIM:268300 ORPHA:93325 ORPHA:3472 OMIM:304120 ORPHA:75249 ORPHA:2237 OMIM:615925 OMIM:617827 ORPHA:477 ORPHA:309246 OMIM:615361 OMIM:252500 ORPHA:576 ORPHA:96182 OMIM:253220 ORPHA:231144 ORPHA:231140 OMIM:300882 OMIM:212750 ORPHA:96191 OMIM:617093 ORPHA:73272 OMIM:608747 OMIM:615961 OMIM:246200 ORPHA:508 ORPHA:769 ORPHA:363958 ORPHA:363965 ORPHA:435628 OMIM:147920 OMIM:300867 ORPHA:261323 OMIM:200990 ORPHA:319182 ORPHA:319671 OMIM:262700 ORPHA:235 OMIM:248370 ORPHA:1272 OMIM:257920 OMIM:156200 OMIM:609981 ORPHA:1596 OMIM:212066 ORPHA:2169 OMIM:619127 OMIM:193700 ORPHA:276432 OMIM:300855 OMIM:615419 OMIM:614800 ORPHA:2177 OMIM:300912 ORPHA:319675 OMIM:619695 OMIM:611091 OMIM:610832 OMIM:619489 OMIM:210720 OMIM:608940 ORPHA:439822 ORPHA:79240 OMIM:613027 OMIM:248700 OMIM:612394 OMIM:251950 OMIM:613038 ORPHA:1435 ORPHA:391408 OMIM:620005 OMIM:101800 ORPHA:79350 OMIM:614023 ORPHA:456312 OMIM:232700 OMIM:614222 OMIM:614225 ORPHA:494344 OMIM:618160 OMIM:210710 OMIM:616651 ORPHA:353298 ORPHA:435938 OMIM:618728 OMIM:615190 ORPHA:98905 ORPHA:959 ORPHA:251028 ORPHA:576283 OMIM:619184 OMIM:616294 OMIM:269150 ORPHA:440713 ORPHA:94065 OMIM:206900 ORPHA:168577 ORPHA:69076 ORPHA:2728 OMIM:300590 OMIM:206920 OMIM:117650 OMIM:618985 ORPHA:319332 OMIM:300966 ORPHA:480907 OMIM:615663 ORPHA:93324 OMIM:241410 ORPHA:2323 ORPHA:2896 OMIM:113620 OMIM:616145 OMIM:213980 OMIM:275100 ORPHA:300570 OMIM:620028 OMIM:619135 ORPHA:411590 OMIM:615777
 

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