Human Phenotype Ontology 
Grandparent Node:
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Abnormality of body weight (HP:0004323)help
Parent Node:
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Decreased body weight (HP:0004325)help
..Starting node
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Failure to thrive (HP:0001508)help
Term ID: 1508
Name: Failure to thrive
Synonym: Faltering weight; Poor weight gain; Postnatal failure to thrive; Undergrowth; Weight faltering
Definition: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Comments:
Reference: HP:0001508
Genes and Diseases:
 
       Child Nodes:
........expandSevere failure to thrive (HP:0001525) help
........expandFailure to thrive in infancy (HP:0001531) help

 Sister Nodes: 
..expandDecreased body mass index (HP:0045082) help
..expandEunuchoid habitus (HP:0003782) help
..expandSlender build (HP:0001533) help
..expandSmall for gestational age (HP:0001518) help
..expandWeight loss (HP:0001824) 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:0001508HP:0001508Failure to thrive0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0001508HP:0001508Failure to thrive0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8.143
HP:0001508HP:0001508Failure to thrive0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0001508HP:0001508Failure to thrive0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0001508HP:0001508Failure to thrive0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3.147
HP:0001508HP:0001508Failure to thrive0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0001508HP:0001508Failure to thrive0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent245
HP:0001508HP:0001508Failure to thrive0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001508HP:0001508Failure to thrive0ABCD1 CL E G H21561ORPHA:388Hirschsprung disease135
HP:0001508HP:0001508Failure to thrive0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj type53
HP:0001508HP:0001508Failure to thrive0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0001508HP:0001508Failure to thrive0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0001508HP:0001508Failure to thrive0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0001508HP:0001508Failure to thrive0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent90
HP:0001508HP:0001508Failure to thrive0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent11
HP:0001508HP:0001508Failure to thrive0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001508HP:0001508Failure to thrive0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0001508HP:0001508Failure to thrive0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0001508HP:0001508Failure to thrive0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria.68
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0001508HP:0001508Failure to thrive0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0001508HP:0001508Failure to thrive0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0001508HP:0001508Failure to thrive0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0001508HP:0001508Failure to thrive0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0ACVR1 CL E G H90171ORPHA:337Fibrodysplasia ossificans progressivaHP:0040283 - Occasional49
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186ORPHA:277Severe combined immunodeficiency due to adenosine deaminase deficiencyHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0001508HP:0001508Failure to thrive0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0001508HP:0001508Failure to thrive0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001508HP:0001508Failure to thrive0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0001508HP:0001508Failure to thrive0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001508HP:0001508Failure to thrive0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001508HP:0001508Failure to thrive0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0001508HP:0001508Failure to thrive0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001508HP:0001508Failure to thrive0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0001508HP:0001508Failure to thrive0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3.117
HP:0001508HP:0001508Failure to thrive0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0001508HP:0001508Failure to thrive0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001508HP:0001508Failure to thrive0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040282 - Frequent260
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0001508HP:0001508Failure to thrive0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0001508HP:0001508Failure to thrive0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0001508HP:0001508Failure to thrive0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0001508HP:0001508Failure to thrive0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0001508HP:0001508Failure to thrive0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040282 - Frequent19
HP:0001508HP:0001508Failure to thrive0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0001508HP:0001508Failure to thrive0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0001508HP:0001508Failure to thrive0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0001508HP:0001508Failure to thrive0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0001508HP:0001508Failure to thrive0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0001508HP:0001508Failure to thrive0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001508HP:0001508Failure to thrive0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0001508HP:0001508Failure to thrive0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0001508HP:0001508Failure to thrive0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001508HP:0001508Failure to thrive0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040282 - Frequent66
HP:0001508HP:0001508Failure to thrive0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001508HP:0001508Failure to thrive0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0001508HP:0001508Failure to thrive0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0001508HP:0001508Failure to thrive0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0001508HP:0001508Failure to thrive0AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 4.44
HP:0001508HP:0001508Failure to thrive0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001508HP:0001508Failure to thrive0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0001508HP:0001508Failure to thrive0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ANO1 CL E G H5510721625OMIM:620045
HP:0001508HP:0001508Failure to thrive0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0001508HP:0001508Failure to thrive0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001508HP:0001508Failure to thrive0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001508HP:0001508Failure to thrive0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0001508HP:0001508Failure to thrive0AQP2 CL E G H359634ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent75
HP:0001508HP:0001508Failure to thrive0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0001508HP:0001508Failure to thrive0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessiveHP:0040283 - Occasional179
HP:0001508HP:0001508Failure to thrive0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent147
HP:0001508HP:0001508Failure to thrive0ARID1B CL E G H5749218040ORPHA:2510566q25 microdeletion syndromeHP:0040282 - Frequent219
HP:0001508HP:0001508Failure to thrive0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease.
HP:0001508HP:0001508Failure to thrive0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0001508HP:0001508Failure to thrive0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare166
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0001508HP:0001508Failure to thrive0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001508HP:0001508Failure to thrive0ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040281 - Very frequent15
HP:0001508HP:0001508Failure to thrive0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001508HP:0001508Failure to thrive0ASNS CL E G H440753OMIM:615574Asparagine synthetase deficiency.17
HP:0001508HP:0001508Failure to thrive0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0001508HP:0001508Failure to thrive0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0001508HP:0001508Failure to thrive0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001508HP:0001508Failure to thrive0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0001508HP:0001508Failure to thrive0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0001508HP:0001508Failure to thrive0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0001508HP:0001508Failure to thrive0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent239
HP:0001508HP:0001508Failure to thrive0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0001508HP:0001508Failure to thrive0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent150
HP:0001508HP:0001508Failure to thrive0ATP5F1A CL E G H498823OMIM:616045Combined oxidative phosphorylation deficiency 22.
HP:0001508HP:0001508Failure to thrive0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0001508HP:0001508Failure to thrive0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001508HP:0001508Failure to thrive0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001508HP:0001508Failure to thrive0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0ATP7A CL E G H538869ORPHA:388Hirschsprung disease192
HP:0001508HP:0001508Failure to thrive0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001508HP:0001508Failure to thrive0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1.144
HP:0001508HP:0001508Failure to thrive0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0001508HP:0001508Failure to thrive0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040281 - Very frequent49
HP:0001508HP:0001508Failure to thrive0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0001508HP:0001508Failure to thrive0AVPR2 CL E G H554897ORPHA:223Nephrogenic diabetes insipidusHP:0040282 - Frequent67
HP:0001508HP:0001508Failure to thrive0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0001508HP:0001508Failure to thrive0B3GALT6 CL E G H12679217978ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040281 - Very frequent38
HP:0001508HP:0001508Failure to thrive0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0001508HP:0001508Failure to thrive0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0001508HP:0001508Failure to thrive0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001508HP:0001508Failure to thrive0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040281 - Very frequent8
HP:0001508HP:0001508Failure to thrive0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001508HP:0001508Failure to thrive0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0001508HP:0001508Failure to thrive0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0001508HP:0001508Failure to thrive0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndromeHP:0040282 - Frequent385
HP:0001508HP:0001508Failure to thrive0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001508HP:0001508Failure to thrive0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0001508HP:0001508Failure to thrive0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0001508HP:0001508Failure to thrive0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0001508HP:0001508Failure to thrive0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0001508HP:0001508Failure to thrive0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001508HP:0001508Failure to thrive0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0001508HP:0001508Failure to thrive0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0001508HP:0001508Failure to thrive0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001508HP:0001508Failure to thrive0CA12 CL E G H7711371OMIM:143860Hyperchlorhidrosis, isolated.4
HP:0001508HP:0001508Failure to thrive0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040281 - Very frequent29
HP:0001508HP:0001508Failure to thrive0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0001508HP:0001508Failure to thrive0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent449
HP:0001508HP:0001508Failure to thrive0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent59
HP:0001508HP:0001508Failure to thrive0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001508HP:0001508Failure to thrive0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001508HP:0001508Failure to thrive0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0001508HP:0001508Failure to thrive0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare118
HP:0001508HP:0001508Failure to thrive0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0001508HP:0001508Failure to thrive0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0001508HP:0001508Failure to thrive0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0001508HP:0001508Failure to thrive0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0001508HP:0001508Failure to thrive0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0001508HP:0001508Failure to thrive0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0001508HP:0001508Failure to thrive0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0001508HP:0001508Failure to thrive0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiencyHP:0040283 - Occasional242
HP:0001508HP:0001508Failure to thrive0CD19 CL E G H9301633ORPHA:1572Common variable immunodeficiency38
HP:0001508HP:0001508Failure to thrive0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0001508HP:0001508Failure to thrive0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta8
HP:0001508HP:0001508Failure to thrive0CD3D CL E G H9151673OMIM:615617Immunodeficiency 19.18
HP:0001508HP:0001508Failure to thrive0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta18
HP:0001508HP:0001508Failure to thrive0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta24
HP:0001508HP:0001508Failure to thrive0CD3G CL E G H9171675OMIM:615607Immunodeficiency 17HP:0040283 - Occasional19
HP:0001508HP:0001508Failure to thrive0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H9731698OMIM:613501Agammaglobulinemia 3, autosomal recessive.9
HP:0001508HP:0001508Failure to thrive0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent6
HP:0001508HP:0001508Failure to thrive0CD81 CL E G H9751701ORPHA:1572Common variable immunodeficiency1
HP:0001508HP:0001508Failure to thrive0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0001508HP:0001508Failure to thrive0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0001508HP:0001508Failure to thrive0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0001508HP:0001508Failure to thrive0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare405
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent200
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0001508HP:0001508Failure to thrive0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0001508HP:0001508Failure to thrive0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001508HP:0001508Failure to thrive0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0001508HP:0001508Failure to thrive0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0001508HP:0001508Failure to thrive0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0CHRNA3 CL E G H11361957OMIM:191800URINARY BLADDER, ATONY OF4
HP:0001508HP:0001508Failure to thrive0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0001508HP:0001508Failure to thrive0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0001508HP:0001508Failure to thrive0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent118
HP:0001508HP:0001508Failure to thrive0CIT CL E G H111131985OMIM:617090Microcephaly 17, primary, autosomal recessive.15
HP:0001508HP:0001508Failure to thrive0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001508HP:0001508Failure to thrive0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001508HP:0001508Failure to thrive0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0001508HP:0001508Failure to thrive0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome.7
HP:0001508HP:0001508Failure to thrive0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent18
HP:0001508HP:0001508Failure to thrive0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0001508HP:0001508Failure to thrive0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001508HP:0001508Failure to thrive0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0001508HP:0001508Failure to thrive0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0001508HP:0001508Failure to thrive0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001508HP:0001508Failure to thrive0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001508HP:0001508Failure to thrive0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001508HP:0001508Failure to thrive0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0001508HP:0001508Failure to thrive0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001508HP:0001508Failure to thrive0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001508HP:0001508Failure to thrive0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0001508HP:0001508Failure to thrive0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0001508HP:0001508Failure to thrive0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0001508HP:0001508Failure to thrive0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0001508HP:0001508Failure to thrive0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0001508HP:0001508Failure to thrive0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0001508HP:0001508Failure to thrive0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0COPB2 CL E G H92762232OMIM:617800Microcephaly 19, primary, autosomal recessive
HP:0001508HP:0001508Failure to thrive0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001508HP:0001508Failure to thrive0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0001508HP:0001508Failure to thrive0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001508HP:0001508Failure to thrive0COX4I2 CL E G H8470116232OMIM:612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis.13
HP:0001508HP:0001508Failure to thrive0COX5A CL E G H93772267OMIM:619064MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001508HP:0001508Failure to thrive0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0001508HP:0001508Failure to thrive0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0001508HP:0001508Failure to thrive0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001508HP:0001508Failure to thrive0CPSF3 CL E G H516922326OMIM:619876
HP:0001508HP:0001508Failure to thrive0CR2 CL E G H13802336ORPHA:1572Common variable immunodeficiency10
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0001508HP:0001508Failure to thrive0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0001508HP:0001508Failure to thrive0CSF2RA CL E G H14382435ORPHA:264675Hereditary pulmonary alveolar proteinosis15
HP:0001508HP:0001508Failure to thrive0CSF2RA CL E G H14382435OMIM:300770SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP415
HP:0001508HP:0001508Failure to thrive0CSF2RB CL E G H14392436ORPHA:264675Hereditary pulmonary alveolar proteinosis17
HP:0001508HP:0001508Failure to thrive0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndromeHP:0040283 - Occasional12
HP:0001508HP:0001508Failure to thrive0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent57
HP:0001508HP:0001508Failure to thrive0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001508HP:0001508Failure to thrive0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0001508HP:0001508Failure to thrive0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040284 - Very rare178
HP:0001508HP:0001508Failure to thrive0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0001508HP:0001508Failure to thrive0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001508HP:0001508Failure to thrive0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001508HP:0001508Failure to thrive0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040281 - Very frequent73
HP:0001508HP:0001508Failure to thrive0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0001508HP:0001508Failure to thrive0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040283 - Occasional53
HP:0001508HP:0001508Failure to thrive0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0001508HP:0001508Failure to thrive0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0001508HP:0001508Failure to thrive0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0001508HP:0001508Failure to thrive0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001508HP:0001508Failure to thrive0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0001508HP:0001508Failure to thrive0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0001508HP:0001508Failure to thrive0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0001508HP:0001508Failure to thrive0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0001508HP:0001508Failure to thrive0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0001508HP:0001508Failure to thrive0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0001508HP:0001508Failure to thrive0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0001508HP:0001508Failure to thrive0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0001508HP:0001508Failure to thrive0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001508HP:0001508Failure to thrive0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type.9
HP:0001508HP:0001508Failure to thrive0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS.72
HP:0001508HP:0001508Failure to thrive0DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0001508HP:0001508Failure to thrive0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent47
HP:0001508HP:0001508Failure to thrive0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent22
HP:0001508HP:0001508Failure to thrive0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent9
HP:0001508HP:0001508Failure to thrive0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare3
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0001508HP:0001508Failure to thrive0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0DNASE2 CL E G H17772960OMIM:619858
HP:0001508HP:0001508Failure to thrive0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent72
HP:0001508HP:0001508Failure to thrive0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0001508HP:0001508Failure to thrive0DNMT3B CL E G H17892979OMIM:242860Immunodeficiency-Centromeric instability-facial anomalies syndrome.79
HP:0001508HP:0001508Failure to thrive0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent18
HP:0001508HP:0001508Failure to thrive0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0001508HP:0001508Failure to thrive0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001508HP:0001508Failure to thrive0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040282 - Frequent38
HP:0001508HP:0001508Failure to thrive0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001508HP:0001508Failure to thrive0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040282 - Frequent27
HP:0001508HP:0001508Failure to thrive0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0001508HP:0001508Failure to thrive0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001508HP:0001508Failure to thrive0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0001508HP:0001508Failure to thrive0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040281 - Very frequent65
HP:0001508HP:0001508Failure to thrive0DYNC2I1 CL E G H5511221862OMIM:615503Short rib-polydactyly syndrome, type VI.
HP:0001508HP:0001508Failure to thrive0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0001508HP:0001508Failure to thrive0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001508HP:0001508Failure to thrive0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0001508HP:0001508Failure to thrive0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0001508HP:0001508Failure to thrive0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0001508HP:0001508Failure to thrive0ECE1 CL E G H18893146ORPHA:388Hirschsprung disease13
HP:0001508HP:0001508Failure to thrive0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0001508HP:0001508Failure to thrive0EDN3 CL E G H19083178ORPHA:388Hirschsprung disease67
HP:0001508HP:0001508Failure to thrive0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0EDNRB CL E G H19103180ORPHA:388Hirschsprung disease55
HP:0001508HP:0001508Failure to thrive0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent60
HP:0001508HP:0001508Failure to thrive0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0001508HP:0001508Failure to thrive0EGFR CL E G H19563236OMIM:616069Inflammatory skin and bowel disease, neonatal, 2.257
HP:0001508HP:0001508Failure to thrive0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0001508HP:0001508Failure to thrive0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0001508HP:0001508Failure to thrive0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0001508HP:0001508Failure to thrive0ELAC2 CL E G H6052814198OMIM:615440Combined oxidative phosphorylation deficiency 17.67
HP:0001508HP:0001508Failure to thrive0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0001508HP:0001508Failure to thrive0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001508HP:0001508Failure to thrive0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0001508HP:0001508Failure to thrive0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0001508HP:0001508Failure to thrive0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040281 - Very frequent4
HP:0001508HP:0001508Failure to thrive0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001508HP:0001508Failure to thrive0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0001508HP:0001508Failure to thrive0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040281 - Very frequent170
HP:0001508HP:0001508Failure to thrive0EPCAM CL E G H407211529OMIM:613217Diarrhea 5, with tufting enteropathy, congenital.170
HP:0001508HP:0001508Failure to thrive0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001508HP:0001508Failure to thrive0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0001508HP:0001508Failure to thrive0ERBB2 CL E G H20643430ORPHA:388Hirschsprung disease77
HP:0001508HP:0001508Failure to thrive0ERBB3 CL E G H20653431ORPHA:388Hirschsprung disease12
HP:0001508HP:0001508Failure to thrive0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0001508HP:0001508Failure to thrive0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001508HP:0001508Failure to thrive0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001508HP:0001508Failure to thrive0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0001508HP:0001508Failure to thrive0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0001508HP:0001508Failure to thrive0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0001508HP:0001508Failure to thrive0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0001508HP:0001508Failure to thrive0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0001508HP:0001508Failure to thrive0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040281 - Very frequent36
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001508HP:0001508Failure to thrive0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001508HP:0001508Failure to thrive0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0001508HP:0001508Failure to thrive0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0001508HP:0001508Failure to thrive0EXOC6B CL E G H2323317085ORPHA:93359Spondyloepimetaphyseal dysplasia with joint laxityHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001508HP:0001508Failure to thrive0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001508HP:0001508Failure to thrive0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0001508HP:0001508Failure to thrive0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001508HP:0001508Failure to thrive0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001508HP:0001508Failure to thrive0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001508HP:0001508Failure to thrive0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0001508HP:0001508Failure to thrive0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001508HP:0001508Failure to thrive0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001508HP:0001508Failure to thrive0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0001508HP:0001508Failure to thrive0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0001508HP:0001508Failure to thrive0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001508HP:0001508Failure to thrive0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001508HP:0001508Failure to thrive0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0001508HP:0001508Failure to thrive0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent1
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent17
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0001508HP:0001508Failure to thrive0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent172
HP:0001508HP:0001508Failure to thrive0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0001508HP:0001508Failure to thrive0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0001508HP:0001508Failure to thrive0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0001508HP:0001508Failure to thrive0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001508HP:0001508Failure to thrive0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0001508HP:0001508Failure to thrive0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001508HP:0001508Failure to thrive0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040282 - Frequent493
HP:0001508HP:0001508Failure to thrive0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0001508HP:0001508Failure to thrive0FOCAD CL E G H5491423377OMIM:6199913
HP:0001508HP:0001508Failure to thrive0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001508HP:0001508Failure to thrive0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001508HP:0001508Failure to thrive0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0001508HP:0001508Failure to thrive0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0001508HP:0001508Failure to thrive0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0001508HP:0001508Failure to thrive0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0001508HP:0001508Failure to thrive0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0001508HP:0001508Failure to thrive0FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0001508HP:0001508Failure to thrive0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0001508HP:0001508Failure to thrive0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0001508HP:0001508Failure to thrive0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0001508HP:0001508Failure to thrive0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent5
HP:0001508HP:0001508Failure to thrive0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent44
HP:0001508HP:0001508Failure to thrive0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0001508HP:0001508Failure to thrive0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent139
HP:0001508HP:0001508Failure to thrive0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0001508HP:0001508Failure to thrive0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0001508HP:0001508Failure to thrive0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0001508HP:0001508Failure to thrive0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0001508HP:0001508Failure to thrive0GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiencyHP:0040284 - Very rare
HP:0001508HP:0001508Failure to thrive0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects.37
HP:0001508HP:0001508Failure to thrive0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndromeHP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0001508HP:0001508Failure to thrive0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0001508HP:0001508Failure to thrive0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001508HP:0001508Failure to thrive0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001508HP:0001508Failure to thrive0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent237
HP:0001508HP:0001508Failure to thrive0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0001508HP:0001508Failure to thrive0GDNF CL E G H26684232ORPHA:388Hirschsprung disease59
HP:0001508HP:0001508Failure to thrive0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001508HP:0001508Failure to thrive0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001508HP:0001508Failure to thrive0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0001508HP:0001508Failure to thrive0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001508HP:0001508Failure to thrive0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001508HP:0001508Failure to thrive0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0001508HP:0001508Failure to thrive0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0001508HP:0001508Failure to thrive0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II120
HP:0001508HP:0001508Failure to thrive0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent173
HP:0001508HP:0001508Failure to thrive0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0001508HP:0001508Failure to thrive0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0001508HP:0001508Failure to thrive0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0001508HP:0001508Failure to thrive0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0001508HP:0001508Failure to thrive0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare36
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001508HP:0001508Failure to thrive0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0001508HP:0001508Failure to thrive0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001508HP:0001508Failure to thrive0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0001508HP:0001508Failure to thrive0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0001508HP:0001508Failure to thrive0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0GPIHBP1 CL E G H33832824945OMIM:615947Hyperlipoproteinemia, type ID.12
HP:0001508HP:0001508Failure to thrive0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0GPT2 CL E G H8470618062OMIM:616281Mental retardation, autosomal recessive 49.4
HP:0001508HP:0001508Failure to thrive0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0001508HP:0001508Failure to thrive0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare108
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0001508HP:0001508Failure to thrive0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare5
HP:0001508HP:0001508Failure to thrive0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001508HP:0001508Failure to thrive0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0001508HP:0001508Failure to thrive0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndromeHP:0040284 - Very rare
HP:0001508HP:0001508Failure to thrive0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0001508HP:0001508Failure to thrive0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiencyHP:0040283 - Occasional100
HP:0001508HP:0001508Failure to thrive0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001508HP:0001508Failure to thrive0H4C5 CL E G H83674790OMIM:619950
HP:0001508HP:0001508Failure to thrive0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001508HP:0001508Failure to thrive0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0001508HP:0001508Failure to thrive0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0001508HP:0001508Failure to thrive0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001508HP:0001508Failure to thrive0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0001508HP:0001508Failure to thrive0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0001508HP:0001508Failure to thrive0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0001508HP:0001508Failure to thrive0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0001508HP:0001508Failure to thrive0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0001508HP:0001508Failure to thrive0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx type.100
HP:0001508HP:0001508Failure to thrive0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent54
HP:0001508HP:0001508Failure to thrive0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0001508HP:0001508Failure to thrive0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001508HP:0001508Failure to thrive0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent21
HP:0001508HP:0001508Failure to thrive0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0001508HP:0001508Failure to thrive0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0001508HP:0001508Failure to thrive0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040282 - Frequent32
HP:0001508HP:0001508Failure to thrive0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13.3
HP:0001508HP:0001508Failure to thrive0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0001508HP:0001508Failure to thrive0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001508HP:0001508Failure to thrive0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001508HP:0001508Failure to thrive0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001508HP:0001508Failure to thrive0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001508HP:0001508Failure to thrive0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32425147ORPHA:2118HawkinsinuriaHP:0040281 - Very frequent23
HP:0001508HP:0001508Failure to thrive0HPD CL E G H32425147OMIM:140350HAWKINSINURIA.23
HP:0001508HP:0001508Failure to thrive0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001508HP:0001508Failure to thrive0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0001508HP:0001508Failure to thrive0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001508HP:0001508Failure to thrive0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040282 - Frequent14
HP:0001508HP:0001508Failure to thrive0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0001508HP:0001508Failure to thrive0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001508HP:0001508Failure to thrive0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0001508HP:0001508Failure to thrive0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040281 - Very frequent26
HP:0001508HP:0001508Failure to thrive0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0001508HP:0001508Failure to thrive0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0001508HP:0001508Failure to thrive0HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1
HP:0001508HP:0001508Failure to thrive0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional
HP:0001508HP:0001508Failure to thrive0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
HP:0001508HP:0001508Failure to thrive0ICOS CL E G H298515351ORPHA:1572Common variable immunodeficiency32
HP:0001508HP:0001508Failure to thrive0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001508HP:0001508Failure to thrive0IFNG CL E G H34585438OMIM:618963IMMUNODEFICIENCY 69; IMD6923
HP:0001508HP:0001508Failure to thrive0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001508HP:0001508Failure to thrive0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0001508HP:0001508Failure to thrive0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040282 - Frequent9
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0001508HP:0001508Failure to thrive0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent7
HP:0001508HP:0001508Failure to thrive0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0001508HP:0001508Failure to thrive0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0001508HP:0001508Failure to thrive0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001508HP:0001508Failure to thrive0IL21 CL E G H590676005OMIM:615767IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID113
HP:0001508HP:0001508Failure to thrive0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0001508HP:0001508Failure to thrive0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0001508HP:0001508Failure to thrive0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0001508HP:0001508Failure to thrive0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0001508HP:0001508Failure to thrive0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040283 - Occasional48
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024OMIM:608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive94
HP:0001508HP:0001508Failure to thrive0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040282 - Frequent94
HP:0001508HP:0001508Failure to thrive0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent62
HP:0001508HP:0001508Failure to thrive0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0001508HP:0001508Failure to thrive0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229
HP:0001508HP:0001508Failure to thrive0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001508HP:0001508Failure to thrive0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0001508HP:0001508Failure to thrive0IRF2BP2 CL E G H35994821729ORPHA:1572Common variable immunodeficiency4
HP:0001508HP:0001508Failure to thrive0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0001508HP:0001508Failure to thrive0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001508HP:0001508Failure to thrive0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0001508HP:0001508Failure to thrive0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0001508HP:0001508Failure to thrive0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001508HP:0001508Failure to thrive0JAGN1 CL E G H8452226926OMIM:616022Neutropenia, severe congenital, 6, autosomal recessiveHP:0040283 - Occasional8
HP:0001508HP:0001508Failure to thrive0JAK1 CL E G H37166190OMIM:618999AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE12
HP:0001508HP:0001508Failure to thrive0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0001508HP:0001508Failure to thrive0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiency140
HP:0001508HP:0001508Failure to thrive0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0001508HP:0001508Failure to thrive0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0001508HP:0001508Failure to thrive0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001508HP:0001508Failure to thrive0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0001508HP:0001508Failure to thrive0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040284 - Very rare145
HP:0001508HP:0001508Failure to thrive0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent13
HP:0001508HP:0001508Failure to thrive0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0001508HP:0001508Failure to thrive0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040282 - Frequent65
HP:0001508HP:0001508Failure to thrive0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent127
HP:0001508HP:0001508Failure to thrive0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0001508HP:0001508Failure to thrive0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0001508HP:0001508Failure to thrive0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001508HP:0001508Failure to thrive0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0001508HP:0001508Failure to thrive0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040282 - Frequent24
HP:0001508HP:0001508Failure to thrive0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001508HP:0001508Failure to thrive0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0001508HP:0001508Failure to thrive0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0001508HP:0001508Failure to thrive0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001508HP:0001508Failure to thrive0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0001508HP:0001508Failure to thrive0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome.91
HP:0001508HP:0001508Failure to thrive0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0001508HP:0001508Failure to thrive0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0001508HP:0001508Failure to thrive0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0001508HP:0001508Failure to thrive0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001508HP:0001508Failure to thrive0KRAS CL E G H38456407ORPHA:3339Toriello-Lacassie-Droste syndromeHP:0040282 - Frequent196
HP:0001508HP:0001508Failure to thrive0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0001508HP:0001508Failure to thrive0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0001508HP:0001508Failure to thrive0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional27
HP:0001508HP:0001508Failure to thrive0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional23
HP:0001508HP:0001508Failure to thrive0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0001508HP:0001508Failure to thrive0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional41
HP:0001508HP:0001508Failure to thrive0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040283 - Occasional4
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H39096483OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.116
HP:0001508HP:0001508Failure to thrive0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent116
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H39146490OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.167
HP:0001508HP:0001508Failure to thrive0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent167
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H39186493OMIM:226700Epidermolysis bullosa, junctional, Herlitz type.135
HP:0001508HP:0001508Failure to thrive0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040281 - Very frequent135
HP:0001508HP:0001508Failure to thrive0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0001508HP:0001508Failure to thrive0LAT CL E G H2704018874OMIM:617514Immunodeficiency 52.2
HP:0001508HP:0001508Failure to thrive0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0001508HP:0001508Failure to thrive0LCK CL E G H39326524OMIM:615758Immunodeficiency 22.1
HP:0001508HP:0001508Failure to thrive0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040281 - Very frequent68
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0001508HP:0001508Failure to thrive0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001508HP:0001508Failure to thrive0LGI3 CL E G H20319018711OMIM:620007
HP:0001508HP:0001508Failure to thrive0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040281 - Very frequent43
HP:0001508HP:0001508Failure to thrive0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0001508HP:0001508Failure to thrive0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0001508HP:0001508Failure to thrive0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0001508HP:0001508Failure to thrive0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0001508HP:0001508Failure to thrive0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001508HP:0001508Failure to thrive0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040282 - Frequent46
HP:0001508HP:0001508Failure to thrive0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0001508HP:0001508Failure to thrive0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0001508HP:0001508Failure to thrive0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001508HP:0001508Failure to thrive0LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040282 - Frequent186
HP:0001508HP:0001508Failure to thrive0LPIN2 CL E G H966314450OMIM:609628MAJEED SYNDROME; MJDS186
HP:0001508HP:0001508Failure to thrive0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0001508HP:0001508Failure to thrive0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0001508HP:0001508Failure to thrive0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001508HP:0001508Failure to thrive0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia1
HP:0001508HP:0001508Failure to thrive0LTC4S CL E G H40566719OMIM:614037LEUKOTRIENE C4 SYNTHASE DEFICIENCY1
HP:0001508HP:0001508Failure to thrive0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 19.4
HP:0001508HP:0001508Failure to thrive0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0001508HP:0001508Failure to thrive0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0001508HP:0001508Failure to thrive0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0001508HP:0001508Failure to thrive0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001508HP:0001508Failure to thrive0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001508HP:0001508Failure to thrive0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0001508HP:0001508Failure to thrive0MAPKAPK5 CL E G H85506889OMIM:619869
HP:0001508HP:0001508Failure to thrive0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0001508HP:0001508Failure to thrive0MBL2 CL E G H41536922OMIM:614372Mannose-Binding lectin deficiency54
HP:0001508HP:0001508Failure to thrive0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0001508HP:0001508Failure to thrive0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent94
HP:0001508HP:0001508Failure to thrive0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0001508HP:0001508Failure to thrive0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001508HP:0001508Failure to thrive0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiency81
HP:0001508HP:0001508Failure to thrive0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001508HP:0001508Failure to thrive0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiency77
HP:0001508HP:0001508Failure to thrive0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency.19
HP:0001508HP:0001508Failure to thrive0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0001508HP:0001508Failure to thrive0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0001508HP:0001508Failure to thrive0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0001508HP:0001508Failure to thrive0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0001508HP:0001508Failure to thrive0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0001508HP:0001508Failure to thrive0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0001508HP:0001508Failure to thrive0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001508HP:0001508Failure to thrive0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001508HP:0001508Failure to thrive0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0001508HP:0001508Failure to thrive0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001508HP:0001508Failure to thrive0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001508HP:0001508Failure to thrive0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040282 - Frequent39
HP:0001508HP:0001508Failure to thrive0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001508HP:0001508Failure to thrive0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0001508HP:0001508Failure to thrive0MIPEP CL E G H42857104OMIM:617228Combined oxidative phosphorylation deficiency 31.7
HP:0001508HP:0001508Failure to thrive0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040283 - Occasional69
HP:0001508HP:0001508Failure to thrive0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001508HP:0001508Failure to thrive0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001508HP:0001508Failure to thrive0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0001508HP:0001508Failure to thrive0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001508HP:0001508Failure to thrive0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0001508HP:0001508Failure to thrive0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0001508HP:0001508Failure to thrive0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0001508HP:0001508Failure to thrive0MMADHC CL E G H2724925221ORPHA:79283Methylmalonic acidemia with homocystinuria, type cblDHP:0040281 - Very frequent50
HP:0001508HP:0001508Failure to thrive0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001508HP:0001508Failure to thrive0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040281 - Very frequent
HP:0001508HP:0001508Failure to thrive0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0001508HP:0001508Failure to thrive0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0001508