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

 Sister Nodes: 
..expandAbnormality of body height (HP:0000002) help
..expandAbnormality of body weight (HP:0004323) help
..expandAsymmetric growth (HP:0100555) help
..expandHeterotaxy (HP:0030853) help
..expandIncreased body fat percentage (HP:0025521) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001510HP:0001510Growth delay0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001510HP:0001510Growth delay0ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001510HP:0001510Growth delay0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001510HP:0001510Growth delay0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001510HP:0001510Growth delay0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001510HP:0001510Growth delay0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001510HP:0001510Growth delay0AHCY CL E G H19188618ORPHA11594343180960
HP:0001510HP:0001510Growth delay0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001510HP:0001510Growth delay0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001510HP:0001510Growth delay0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001510HP:0001510Growth delay0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001510HP:0001510Growth delay0ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001510HP:0001510Growth delay0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001510HP:0001510Growth delay0AVP CL E G H55130925ORPHA18369894192340
HP:0001510HP:0001510Growth delay0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001510HP:0001510Growth delay0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001510Growth delay0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001510HP:0001510Growth delay0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001510HP:0001510Growth delay0CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001510HP:0001510Growth delay0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001510HP:0001510Growth delay0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0001510HP:0001510Growth delay0COG4 CL E G H25839263501ORPHA1614118620606976
HP:0001510HP:0001510Growth delay0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001510HP:0001510Growth delay0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0001510HP:0001510Growth delay0CTNS CL E G H1497411629ORPHA11604182518606272
HP:0001510HP:0001510Growth delay0CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1552212592124080
HP:0001510HP:0001510Growth delay0CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1552212592124080
HP:0001510HP:0001510Growth delay0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001510HP:0001510Growth delay0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001510HP:0001510Growth delay0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001510HP:0001510Growth delay0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001510HP:0001510Growth delay0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001510HP:0001510Growth delay0DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001510HP:0001510Growth delay0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001510HP:0001510Growth delay0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001510HP:0001510Growth delay0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM135893048125670
HP:0001510HP:0001510Growth delay0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0001510HP:0001510Growth delay0DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM1185432698612772
HP:0001510HP:0001510Growth delay0EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0001510HP:0001510Growth delay0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001510HP:0001510Growth delay0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM11712214415605512
HP:0001510HP:0001510Growth delay0ELP1 CL E G H85181764ORPHA166605959603722
HP:0001510HP:0001510Growth delay0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0001510HP:0001510Growth delay0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001510HP:0001510Growth delay0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001510HP:0001510Growth delay0FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001510HP:0001510Growth delay0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001510HP:0001510Growth delay0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001510HP:0001510Growth delay0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001510HP:0001510Growth delay0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001510HP:0001510Growth delay0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001510HP:0001510Growth delay0FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0001510HP:0001510Growth delay0FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM1152033974606806
HP:0001510HP:0001510Growth delay0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001510HP:0001510Growth delay0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001510HP:0001510Growth delay0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001510HP:0001510Growth delay0GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM12792164392139320
HP:0001510HP:0001510Growth delay0GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001510HP:0001510Growth delay0GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0001510HP:0001510Growth delay0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001510HP:0001510Growth delay0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0001510HP:0001510Growth delay0HLCS CL E G H314179242ORPHA1493734976609018
HP:0001510HP:0001510Growth delay0HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0001510HP:0001510Growth delay0HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0001510HP:0001510Growth delay0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001510HP:0001510Growth delay0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0001510HP:0001510Growth delay0IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM154621071612025
HP:0001510HP:0001510Growth delay0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001510HP:0001510Growth delay0KRAS CL E G H38453339ORPHA1452746407190070
HP:0001510HP:0001510Growth delay0KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001510HP:0001510Growth delay0KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11181356416148066
HP:0001510HP:0001510Growth delay0KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11552236442148040
HP:0001510HP:0001510Growth delay0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001510HP:0001510Growth delay0LIG4 CL E G H398199812ORPHA1403176601601837
HP:0001510HP:0001510Growth delay0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0001510HP:0001510Growth delay0LIPA CL E G H398875233ORPHA1962466617613497
HP:0001510HP:0001510Growth delay0LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM157411526636150330
HP:0001510HP:0001510Growth delay0LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0001510HP:0001510Growth delay0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0001510HP:0001510Growth delay0MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM171496819604860
HP:0001510HP:0001510Growth delay0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001510HP:0001510Growth delay0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001510HP:0001510Growth delay0MMUT CL E G H4594289916ORPHA14407526609058
HP:0001510HP:0001510Growth delay0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0001510HP:0001510Growth delay0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001510HP:0001510Growth delay0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0001510HP:0001510Growth delay0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001510HP:0001510Growth delay0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001510HP:0001510Growth delay0MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM1814197603606540
HP:0001510HP:0001510Growth delay0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001510HP:0001510Growth delay0NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM17847680600853
HP:0001510HP:0001510Growth delay0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001510HP:0001510Growth delay0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001510HP:0001510Growth delay0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0001510HP:0001510Growth delay0NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001510HP:0001510Growth delay0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM139214377606470
HP:0001510HP:0001510Growth delay0NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM11122152488600584
HP:0001510HP:0001510Growth delay0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001510HP:0001510Growth delay0NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM114248816400606416
HP:0001510HP:0001510Growth delay0NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001510HP:0001510Growth delay0NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001510HP:0001510Growth delay0NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM13204837908602716
HP:0001510HP:0001510Growth delay0OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0001510HP:0001510Growth delay0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0001510HP:0001510Growth delay0PAH CL E G H505379254ORPHA19809208582612349
HP:0001510HP:0001510Growth delay0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0001510HP:0001510Growth delay0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001510HP:0001510Growth delay0PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0001510HP:0001510Growth delay0PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0001510HP:0001510Growth delay0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001510HP:0001510Growth delay0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001510HP:0001510Growth delay0PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0001510HP:0001510Growth delay0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0001510HP:0001510Growth delay0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0001510HP:0001510Growth delay0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0001510HP:0001510Growth delay0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0001510HP:0001510Growth delay0PPM1B CL E G H5495163693ORPHA11309276603770
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163693ORPHA11827030228609557
HP:0001510HP:0001510Growth delay0PREPL CL E G H9581163690ORPHA11827030228609557
HP:0001510HP:0001510Growth delay0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001510HP:0001510Growth delay0RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0001510HP:0001510Growth delay0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0001510HP:0001510Growth delay0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0001510HP:0001510Growth delay0RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0001510HP:0001510Growth delay0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0001510HP:0001510Growth delay0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001510HP:0001510Growth delay0RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001510HP:0001510Growth delay0RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001510HP:0001510Growth delay0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0001510HP:0001510Growth delay0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0001510HP:0001510Growth delay0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0001510HP:0001510Growth delay0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001510HP:0001510Growth delay0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0001510HP:0001510Growth delay0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0001510HP:0001510Growth delay0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111522910983603859
HP:0001510HP:0001510Growth delay0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0001510HP:0001510Growth delay0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0001510HP:0001510Growth delay0SLC3A1 CL E G H6519163690ORPHA124121111025104614
HP:0001510HP:0001510Growth delay0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
HP:0001510HP:0001510Growth delay0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0001510HP:0001510Growth delay0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0001510HP:0001510Growth delay0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0001510HP:0001510Growth delay0SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001510HP:0001510Growth delay0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0001510HP:0001510Growth delay0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0001510HP:0001510Growth delay0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0001510HP:0001510Growth delay0TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM13614011573613018
HP:0001510HP:0001510Growth delay0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001510HP:0001510Growth delay0TBR1 CL E G H107161617ORPHA1187811590604616
HP:0001510HP:0001510Growth delay0TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001510HP:0001510Growth delay0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001510HP:0001510Growth delay0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001510HP:0001510Growth delay0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001510HP:0001510Growth delay0TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001510HP:0001510Growth delay0TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001510HP:0001510Growth delay0TRHR CL E G H720199832ORPHA174912299188545
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0001510HP:0001510Growth delay0TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM183212382604714
HP:0001510HP:0001510Growth delay0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0001510HP:0001510Growth delay0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001510HP:0001510Growth delay0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM112334399616097
HP:0001510HP:0001510Growth delay0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001510HP:0001510Growth delay0VPS11 CL E G H55823466934ORPHA135414583608549
HP:0001510HP:0001510Growth delay0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0001510HP:0001510Growth delay0WNT4 CL E G H54361139466ORPHA182912783603490
HP:0001510HP:0001510Growth delay0XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM12335812829600375
HP:0001510HP:0001510Growth delay0XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0001510HP:0001510Growth delay0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0001510HP:0001510Growth delay0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA14414612851605066
HP:0001510HP:0001510Growth delay0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0001510HP:0001510Growth delay1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001510HP:0001510Growth delay1ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001510HP:0001510Growth delay1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001510HP:0001510Growth delay1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001510HP:0001510Growth delay1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001510HP:0001510Growth delay1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001510HP:0001510Growth delay1AHCY CL E G H19188618ORPHA11594343180960
HP:0001510HP:0001510Growth delay1ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001510HP:0001510Growth delay1ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001510HP:0001510Growth delay1ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001510HP:0001510Growth delay1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001510HP:0001510Growth delay1ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001510HP:0001510Growth delay1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001510HP:0001510Growth delay1AVP CL E G H55130925ORPHA18369894192340
HP:0001510HP:0001510Growth delay1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001510HP:0001510Growth delay1CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001510Growth delay1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001510HP:0001510Growth delay1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001510HP:0001510Growth delay1CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001510HP:0001510Growth delay1CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001510HP:0001510Growth delay1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001510HP:0001510Growth delay1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0001510HP:0001510Growth delay1COG4 CL E G H25839263501ORPHA1614118620606976
HP:0001510HP:0001510Growth delay1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001510HP:0001510Growth delay1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0001510HP:0001510Growth delay1CTNS CL E G H1497411629ORPHA11604182518606272
HP:0001510HP:0001510Growth delay1CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0001510HP:0001510Growth delay1CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1552212592124080
HP:0001510HP:0001510Growth delay1CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1552212592124080
HP:0001510HP:0001510Growth delay1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001510HP:0001510Growth delay1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001510HP:0001510Growth delay1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001510HP:0001510Growth delay1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001510HP:0001510Growth delay1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001510HP:0001510Growth delay1DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001510HP:0001510Growth delay1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001510HP:0001510Growth delay1DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001510HP:0001510Growth delay1DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM135893048125670
HP:0001510HP:0001510Growth delay1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0001510HP:0001510Growth delay1DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM1185432698612772
HP:0001510HP:0001510Growth delay1EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0001510HP:0001510Growth delay1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001510HP:0001510Growth delay1ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM11712214415605512
HP:0001510HP:0001510Growth delay1ELP1 CL E G H85181764ORPHA166605959603722
HP:0001510HP:0001510Growth delay1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0001510HP:0001510Growth delay1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001510HP:0001510Growth delay1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001510HP:0001510Growth delay1FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001510HP:0001510Growth delay1FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001510HP:0001510Growth delay1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001510HP:0001510Growth delay1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001510HP:0001510Growth delay1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001510HP:0001510Growth delay1FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001510HP:0001510Growth delay1FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0001510HP:0001510Growth delay1FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM1152033974606806
HP:0001510HP:0001510Growth delay1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001510HP:0001510Growth delay1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001510HP:0001510Growth delay1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001510HP:0001510Growth delay1GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM12792164392139320
HP:0001510HP:0001510Growth delay1GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001510HP:0001510Growth delay1GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0001510HP:0001510Growth delay1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001510HP:0001510Growth delay1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0001510HP:0001510Growth delay1HLCS CL E G H314179242ORPHA1493734976609018
HP:0001510HP:0001510Growth delay1HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0001510HP:0001510Growth delay1HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0001510HP:0001510Growth delay1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001510HP:0001510Growth delay1IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0001510HP:0001510Growth delay1IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM154621071612025
HP:0001510HP:0001510Growth delay1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001510HP:0001510Growth delay1KRAS CL E G H38453339ORPHA1452746407190070
HP:0001510HP:0001510Growth delay1KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001510HP:0001510Growth delay1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11181356416148066
HP:0001510HP:0001510Growth delay1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11552236442148040
HP:0001510HP:0001510Growth delay1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001510HP:0001510Growth delay1LIG4 CL E G H398199812ORPHA1403176601601837
HP:0001510HP:0001510Growth delay1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0001510HP:0001510Growth delay1LIPA CL E G H398875233ORPHA1962466617613497
HP:0001510HP:0001510Growth delay1LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM157411526636150330
HP:0001510HP:0001510Growth delay1LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0001510HP:0001510Growth delay1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0001510HP:0001510Growth delay1MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM171496819604860
HP:0001510HP:0001510Growth delay1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001510HP:0001510Growth delay1MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001510HP:0001510Growth delay1MMUT CL E G H4594289916ORPHA14407526609058
HP:0001510HP:0001510Growth delay1MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0001510HP:0001510Growth delay1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001510HP:0001510Growth delay1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0001510HP:0001510Growth delay1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001510HP:0001510Growth delay1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001510HP:0001510Growth delay1MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM1814197603606540
HP:0001510HP:0001510Growth delay1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001510HP:0001510Growth delay1NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM17847680600853
HP:0001510HP:0001510Growth delay1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001510HP:0001510Growth delay1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001510HP:0001510Growth delay1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0001510HP:0001510Growth delay1NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001510HP:0001510Growth delay1NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM139214377606470
HP:0001510HP:0001510Growth delay1NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM11122152488600584
HP:0001510HP:0001510Growth delay1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001510HP:0001510Growth delay1NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM114248816400606416
HP:0001510HP:0001510Growth delay1NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001510HP:0001510Growth delay1NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001510HP:0001510Growth delay1NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM13204837908602716
HP:0001510HP:0001510Growth delay1OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0001510HP:0001510Growth delay1PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0001510HP:0001510Growth delay1PAH CL E G H505379254ORPHA19809208582612349
HP:0001510HP:0001510Growth delay1PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0001510HP:0001510Growth delay1PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001510HP:0001510Growth delay1PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0001510HP:0001510Growth delay1PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0001510HP:0001510Growth delay1PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001510HP:0001510Growth delay1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001510HP:0001510Growth delay1PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0001510HP:0001510Growth delay1PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0001510HP:0001510Growth delay1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0001510HP:0001510Growth delay1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0001510HP:0001510Growth delay1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0001510HP:0001510Growth delay1PPM1B CL E G H5495163693ORPHA11309276603770
HP:0001510HP:0001510Growth delay1PREPL CL E G H9581163693ORPHA11827030228609557
HP:0001510HP:0001510Growth delay1PREPL CL E G H9581163690ORPHA11827030228609557
HP:0001510HP:0001510Growth delay1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001510HP:0001510Growth delay1RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0001510HP:0001510Growth delay1RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0001510HP:0001510Growth delay1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0001510HP:0001510Growth delay1RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0001510HP:0001510Growth delay1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0001510HP:0001510Growth delay1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001510HP:0001510Growth delay1RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001510HP:0001510Growth delay1RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001510HP:0001510Growth delay1SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0001510HP:0001510Growth delay1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0001510HP:0001510Growth delay1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0001510HP:0001510Growth delay1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001510HP:0001510Growth delay1SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0001510HP:0001510Growth delay1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0001510HP:0001510Growth delay1SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111522910983603859
HP:0001510HP:0001510Growth delay1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0001510HP:0001510Growth delay1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001510HP:0001510Growth delay1SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0001510HP:0001510Growth delay1SLC3A1 CL E G H6519163690ORPHA124121111025104614
HP:0001510HP:0001510Growth delay1SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
HP:0001510HP:0001510Growth delay1SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0001510HP:0001510Growth delay1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0001510HP:0001510Growth delay1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0001510HP:0001510Growth delay1SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001510HP:0001510Growth delay1SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0001510HP:0001510Growth delay1SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0001510HP:0001510Growth delay1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0001510HP:0001510Growth delay1TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM13614011573613018
HP:0001510HP:0001510Growth delay1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001510HP:0001510Growth delay1TBR1 CL E G H107161617ORPHA1187811590604616
HP:0001510HP:0001510Growth delay1TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001510HP:0001510Growth delay1THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001510HP:0001510Growth delay1TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001510HP:0001510Growth delay1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0001510HP:0001510Growth delay1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001510HP:0001510Growth delay1TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001510HP:0001510Growth delay1TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001510HP:0001510Growth delay1TRHR CL E G H720199832ORPHA174912299188545
HP:0001510HP:0001510Growth delay1TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0001510HP:0001510Growth delay1TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM183212382604714
HP:0001510HP:0001510Growth delay1UBE3B CL E G H899102707ORPHA1255413478608047
HP:0001510HP:0001510Growth delay1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001510HP:0001510Growth delay1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM112334399616097
HP:0001510HP:0001510Growth delay1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001510HP:0001510Growth delay1VPS11 CL E G H55823466934ORPHA135414583608549
HP:0001510HP:0001510Growth delay1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0001510HP:0001510Growth delay1WNT4 CL E G H54361139466ORPHA182912783603490
HP:0001510HP:0001510Growth delay1XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM12335812829600375
HP:0001510HP:0001510Growth delay1XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0001510HP:0001510Growth delay1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0001510HP:0001510Growth delay1YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA14414612851605066
HP:0001510HP:0001510Growth delay1ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0001510HP:0001510Growth delay2ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001510HP:0001510Growth delay2ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001510HP:0001510Growth delay2ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001510HP:0001510Growth delay2ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001510HP:0001510Growth delay2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001510HP:0001510Growth delay2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001510HP:0001510Growth delay2AHCY CL E G H19188618ORPHA11594343180960
HP:0001510HP:0001510Growth delay2ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001510HP:0001510Growth delay2ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001510HP:0001510Growth delay2ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001510HP:0001510Growth delay2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001510HP:0001510Growth delay2ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001510HP:0001510Growth delay2ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001510HP:0001510Growth delay2AVP CL E G H55130925ORPHA18369894192340
HP:0001510HP:0001510Growth delay2BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001510HP:0001510Growth delay2CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001510Growth delay2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001510HP:0001510Growth delay2CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001510HP:0001510Growth delay2CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001510HP:0001510Growth delay2CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001510HP:0001510Growth delay2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001510HP:0001510Growth delay2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0001510HP:0001510Growth delay2COG4 CL E G H25839263501ORPHA1614118620606976
HP:0001510HP:0001510Growth delay2COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001510HP:0001510Growth delay2COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0001510HP:0001510Growth delay2CTNS CL E G H1497411629ORPHA11604182518606272
HP:0001510HP:0001510Growth delay2CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0001510HP:0001510Growth delay2CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1552212592124080
HP:0001510HP:0001510Growth delay2CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1552212592124080
HP:0001510HP:0001510Growth delay2CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001510HP:0001510Growth delay2CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001510HP:0001510Growth delay2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001510HP:0001510Growth delay2DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001510HP:0001510Growth delay2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001510HP:0001510Growth delay2DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001510HP:0001510Growth delay2DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001510HP:0001510Growth delay2DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001510HP:0001510Growth delay2DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM135893048125670
HP:0001510HP:0001510Growth delay2DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0001510HP:0001510Growth delay2DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM1185432698612772
HP:0001510HP:0001510Growth delay2EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0001510HP:0001510Growth delay2ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001510HP:0001510Growth delay2ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM11712214415605512
HP:0001510HP:0001510Growth delay2ELP1 CL E G H85181764ORPHA166605959603722
HP:0001510HP:0001510Growth delay2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0001510HP:0001510Growth delay2EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001510HP:0001510Growth delay2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001510HP:0001510Growth delay2FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001510HP:0001510Growth delay2FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001510HP:0001510Growth delay2FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001510HP:0001510Growth delay2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001510HP:0001510Growth delay2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001510HP:0001510Growth delay2FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001510HP:0001510Growth delay2FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0001510HP:0001510Growth delay2FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM1152033974606806
HP:0001510HP:0001510Growth delay2G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001510HP:0001510Growth delay2GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001510HP:0001510Growth delay2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001510HP:0001510Growth delay2GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM12792164392139320
HP:0001510HP:0001510Growth delay2GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001510HP:0001510Growth delay2GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0001510HP:0001510Growth delay2HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001510HP:0001510Growth delay2HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0001510HP:0001510Growth delay2HLCS CL E G H314179242ORPHA1493734976609018
HP:0001510HP:0001510Growth delay2HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0001510HP:0001510Growth delay2HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0001510HP:0001510Growth delay2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001510HP:0001510Growth delay2IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0001510HP:0001510Growth delay2IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM154621071612025
HP:0001510HP:0001510Growth delay2KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001510HP:0001510Growth delay2KRAS CL E G H38453339ORPHA1452746407190070
HP:0001510HP:0001510Growth delay2KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001510HP:0001510Growth delay2KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11181356416148066
HP:0001510HP:0001510Growth delay2KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11552236442148040
HP:0001510HP:0001510Growth delay2LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001510HP:0001510Growth delay2LIG4 CL E G H398199812ORPHA1403176601601837
HP:0001510HP:0001510Growth delay2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0001510HP:0001510Growth delay2LIPA CL E G H398875233ORPHA1962466617613497
HP:0001510HP:0001510Growth delay2LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM157411526636150330
HP:0001510HP:0001510Growth delay2LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0001510HP:0001510Growth delay2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0001510HP:0001510Growth delay2MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM171496819604860
HP:0001510HP:0001510Growth delay2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001510HP:0001510Growth delay2MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001510HP:0001510Growth delay2MMUT CL E G H4594289916ORPHA14407526609058
HP:0001510HP:0001510Growth delay2MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0001510HP:0001510Growth delay2MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001510HP:0001510Growth delay2MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0001510HP:0001510Growth delay2MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001510HP:0001510Growth delay2MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001510HP:0001510Growth delay2MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM1814197603606540
HP:0001510HP:0001510Growth delay2NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001510HP:0001510Growth delay2NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM17847680600853
HP:0001510HP:0001510Growth delay2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001510HP:0001510Growth delay2NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001510HP:0001510Growth delay2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0001510HP:0001510Growth delay2NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001510HP:0001510Growth delay2NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM139214377606470
HP:0001510HP:0001510Growth delay2NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM11122152488600584
HP:0001510HP:0001510Growth delay2NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001510HP:0001510Growth delay2NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM114248816400606416
HP:0001510HP:0001510Growth delay2NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001510HP:0001510Growth delay2NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001510HP:0001510Growth delay2NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM13204837908602716
HP:0001510HP:0001510Growth delay2OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0001510HP:0001510Growth delay2PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0001510HP:0001510Growth delay2PAH CL E G H505379254ORPHA19809208582612349
HP:0001510HP:0001510Growth delay2PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0001510HP:0001510Growth delay2PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001510HP:0001510Growth delay2PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0001510HP:0001510Growth delay2PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0001510HP:0001510Growth delay2PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001510HP:0001510Growth delay2PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001510HP:0001510Growth delay2PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0001510HP:0001510Growth delay2PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0001510HP:0001510Growth delay2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0001510HP:0001510Growth delay2PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0001510HP:0001510Growth delay2PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0001510HP:0001510Growth delay2PPM1B CL E G H5495163693ORPHA11309276603770
HP:0001510HP:0001510Growth delay2PREPL CL E G H9581163693ORPHA11827030228609557
HP:0001510HP:0001510Growth delay2PREPL CL E G H9581163690ORPHA11827030228609557
HP:0001510HP:0001510Growth delay2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001510HP:0001510Growth delay2RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0001510HP:0001510Growth delay2RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0001510HP:0001510Growth delay2RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0001510HP:0001510Growth delay2RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0001510HP:0001510Growth delay2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0001510HP:0001510Growth delay2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001510HP:0001510Growth delay2RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001510HP:0001510Growth delay2RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001510HP:0001510Growth delay2SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0001510HP:0001510Growth delay2SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0001510HP:0001510Growth delay2SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0001510HP:0001510Growth delay2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001510HP:0001510Growth delay2SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0001510HP:0001510Growth delay2SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0001510HP:0001510Growth delay2SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111522910983603859
HP:0001510HP:0001510Growth delay2SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0001510HP:0001510Growth delay2SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001510HP:0001510Growth delay2SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0001510HP:0001510Growth delay2SLC3A1 CL E G H6519163690ORPHA124121111025104614
HP:0001510HP:0001510Growth delay2SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
HP:0001510HP:0001510Growth delay2SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0001510HP:0001510Growth delay2SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0001510HP:0001510Growth delay2SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0001510HP:0001510Growth delay2SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001510HP:0001510Growth delay2SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0001510HP:0001510Growth delay2SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0001510HP:0001510Growth delay2SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0001510HP:0001510Growth delay2TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM13614011573613018
HP:0001510HP:0001510Growth delay2TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001510HP:0001510Growth delay2TBR1 CL E G H107161617ORPHA1187811590604616
HP:0001510HP:0001510Growth delay2TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001510HP:0001510Growth delay2THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001510HP:0001510Growth delay2TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001510HP:0001510Growth delay2TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0001510HP:0001510Growth delay2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001510HP:0001510Growth delay2TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001510HP:0001510Growth delay2TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001510HP:0001510Growth delay2TRHR CL E G H720199832ORPHA174912299188545
HP:0001510HP:0001510Growth delay2TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0001510HP:0001510Growth delay2TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM183212382604714
HP:0001510HP:0001510Growth delay2UBE3B CL E G H899102707ORPHA1255413478608047
HP:0001510HP:0001510Growth delay2UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001510HP:0001510Growth delay2UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM112334399616097
HP:0001510HP:0001510Growth delay2VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001510HP:0001510Growth delay2VPS11 CL E G H55823466934ORPHA135414583608549
HP:0001510HP:0001510Growth delay2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0001510HP:0001510Growth delay2WNT4 CL E G H54361139466ORPHA182912783603490
HP:0001510HP:0001510Growth delay2XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM12335812829600375
HP:0001510HP:0001510Growth delay2XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0001510HP:0001510Growth delay2YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0001510HP:0001510Growth delay2YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA14414612851605066
HP:0001510HP:0001510Growth delay2ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0001510HP:0001510Growth delay3ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001510HP:0001510Growth delay3ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001510HP:0001510Growth delay3ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001510HP:0001510Growth delay3ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001510HP:0001510Growth delay3ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001510HP:0001510Growth delay3AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001510HP:0001510Growth delay3AHCY CL E G H19188618ORPHA11594343180960
HP:0001510HP:0001510Growth delay3ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001510HP:0001510Growth delay3ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001510HP:0001510Growth delay3ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001510HP:0001510Growth delay3AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001510HP:0001510Growth delay3ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001510HP:0001510Growth delay3ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001510HP:0001510Growth delay3AVP CL E G H55130925ORPHA18369894192340
HP:0001510HP:0001510Growth delay3BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001510HP:0001510Growth delay3CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001510HP:0001510Growth delay3CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19658429253612013
HP:0001510HP:0001510Growth delay3CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0001510HP:0001510Growth delay3CLCN7 CL E G H1186667ORPHA11002682025602727
HP:0001510HP:0001510Growth delay3CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001510HP:0001510Growth delay3CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001510HP:0001510Growth delay3CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12521730664616254
HP:0001510HP:0001510Growth delay3COG4 CL E G H25839263501ORPHA1614118620606976
HP:0001510HP:0001510Growth delay3COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM18286912214120120
HP:0001510HP:0001510Growth delay3COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0001510HP:0001510Growth delay3CTNS CL E G H1497411629ORPHA11604182518606272
HP:0001510HP:0001510Growth delay3CYB5R3 CL E G H1727250800Deficiency of cytochrome-b5 reductase250800C0268193OMIM175852873613213
HP:0001510HP:0001510Growth delay3CYP11B2 CL E G H1585203400Corticosterone methyloxidase type 1 deficiency203400CN074214OMIM1552212592124080
HP:0001510HP:0001510Growth delay3CYP11B2 CL E G H1585610600Corticosterone methyloxidase type 2 deficiency610600C3463917OMIM1552212592124080
HP:0001510HP:0001510Growth delay3CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA1731512594107910
HP:0001510HP:0001510Growth delay3CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001510HP:0001510Growth delay3CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM164620580608713
HP:0001510HP:0001510Growth delay3DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0001510HP:0001510Growth delay3DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001510HP:0001510Growth delay3DHODH CL E G H1723263750Miller syndrome263750C0265257OMIM1201252867126064
HP:0001510HP:0001510Growth delay3DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001510HP:0001510Growth delay3DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001510HP:0001510Growth delay3DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM135893048125670
HP:0001510HP:0001510Growth delay3DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM1910171090113810
HP:0001510HP:0001510Growth delay3DUOXA2 CL E G H405753274900Thyroglobulin synthesis defect274900C0342196OMIM1185432698612772
HP:0001510HP:0001510Growth delay3EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0001510HP:0001510Growth delay3ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM12123814198605367
HP:0001510HP:0001510Growth delay3ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM11712214415605512
HP:0001510HP:0001510Growth delay3ELP1 CL E G H85181764ORPHA166605959603722
HP:0001510HP:0001510Growth delay3ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0001510HP:0001510Growth delay3EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001510HP:0001510Growth delay3EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11914017944606489
HP:0001510HP:0001510Growth delay3FANCB CL E G H2187300514Fanconi anemia, complementation group B300514C1845292OMIM1213523583300515
HP:0001510HP:0001510Growth delay3FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001510HP:0001510Growth delay3FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001510HP:0001510Growth delay3FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0001510HP:0001510Growth delay3FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001510HP:0001510Growth delay3FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001510HP:0001510Growth delay3FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0001510HP:0001510Growth delay3FTCD CL E G H10841229100GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY229100C0268609OMIM1152033974606806
HP:0001510HP:0001510Growth delay3G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0001510HP:0001510Growth delay3GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001510HP:0001510Growth delay3GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001510HP:0001510Growth delay3GNAS CL E G H2778166350Progressive osseous heteroplasia166350C0334041OMIM12792164392139320
HP:0001510HP:0001510Growth delay3GNB1 CL E G H2782488613ORPHA1241844396139380
HP:0001510HP:0001510Growth delay3GUCY2D CL E G H3000204000Leber congenital amaurosis 1204000C2931258OMIM12433884689600179
HP:0001510HP:0001510Growth delay3HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM126944799601609
HP:0001510HP:0001510Growth delay3HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0001510HP:0001510Growth delay3HLCS CL E G H314179242ORPHA1493734976609018
HP:0001510HP:0001510Growth delay3HMOX1 CL E G H3162614034Heme oxygenase 1 deficiency614034C1841651OMIM114325013141250
HP:0001510HP:0001510Growth delay3HSD11B2 CL E G H3291218030Apparent mineralocorticoid excess218030C2936861OMIM149625209614232
HP:0001510HP:0001510Growth delay3HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001510HP:0001510Growth delay3IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0001510HP:0001510Growth delay3IYD CL E G H389434274800Iodotyrosine deiodination defect274800C0342195OMIM154621071612025
HP:0001510HP:0001510Growth delay3KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14538630497611254
HP:0001510HP:0001510Growth delay3KRAS CL E G H38453339ORPHA1452746407190070
HP:0001510HP:0001510Growth delay3KRT14 CL E G H386189838ORPHA11181356416148066
HP:0001510HP:0001510Growth delay3KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11181356416148066
HP:0001510HP:0001510Growth delay3KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11552236442148040
HP:0001510HP:0001510Growth delay3LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001510HP:0001510Growth delay3LIG4 CL E G H398199812ORPHA1403176601601837
HP:0001510HP:0001510Growth delay3LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM1917230922610350
HP:0001510HP:0001510Growth delay3LIPA CL E G H398875233ORPHA1962466617613497
HP:0001510HP:0001510Growth delay3LMNA CL E G H4000176670Hutchinson-Gilford syndrome176670C0033300OMIM157411526636150330
HP:0001510HP:0001510Growth delay3LPIN2 CL E G H9663609628Majeed syndrome609628C1864997OMIM11650914450605519
HP:0001510HP:0001510Growth delay3LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0001510HP:0001510Growth delay3MALT1 CL E G H10892615468Immunodeficiency 12615468C3809583OMIM171496819604860
HP:0001510HP:0001510Growth delay3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0001510HP:0001510Growth delay3MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM1221226901600521
HP:0001510HP:0001510Growth delay3MMUT CL E G H4594289916ORPHA14407526609058
HP:0001510HP:0001510Growth delay3MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0001510HP:0001510Growth delay3MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001510HP:0001510Growth delay3MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM1195016002609188
HP:0001510HP:0001510Growth delay3MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001510HP:0001510Growth delay3MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001510HP:0001510Growth delay3MYO5B CL E G H4645251850Congenital microvillous atrophy251850C0341306OMIM1814197603606540
HP:0001510HP:0001510Growth delay3NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001510HP:0001510Growth delay3NDST1 CL E G H3340616116Mental retardation, autosomal recessive 46616116C4015283OMIM17847680600853
HP:0001510HP:0001510Growth delay3NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001510HP:0001510Growth delay3NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001510HP:0001510Growth delay3NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0001510HP:0001510Growth delay3NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0001510HP:0001510Growth delay3NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM139214377606470
HP:0001510HP:0001510Growth delay3NKX2-5 CL E G H1482225250Hypothyroidism, congenital, nongoitrous, 5225250C2673630OMIM11122152488600584
HP:0001510HP:0001510Growth delay3NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0001510HP:0001510Growth delay3NLRP3 CL E G H114548607115Chronic infantile neurological, cutaneous and articular syndrome607115C0409818OMIM114248816400606416
HP:0001510HP:0001510Growth delay3NPHP1 CL E G H4867256100Nephronophthisis 1256100C1855681OMIM1794037905607100
HP:0001510HP:0001510Growth delay3NPHP4 CL E G H261734606966Nephronophthisis 4606966C1847013OMIM111865919104607215
HP:0001510HP:0001510Growth delay3NPHS1 CL E G H4868256300Finnish congenital nephrotic syndrome256300C0403399OMIM13204837908602716
HP:0001510HP:0001510Growth delay3OFD1 CL E G H8481300804Joubert syndrome 10300804C2749019OMIM11625102567300170
HP:0001510HP:0001510Growth delay3PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0001510HP:0001510Growth delay3PAH CL E G H505379254ORPHA19809208582612349
HP:0001510HP:0001510Growth delay3PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0001510HP:0001510Growth delay3PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM1511438622167415
HP:0001510HP:0001510Growth delay3PEX19 CL E G H5824614886Peroxisome biogenesis disorder 12A614886C3554002OMIM141339713600279
HP:0001510HP:0001510Growth delay3PHGDH CL E G H26227601815Phosphoglycerate dehydrogenase deficiency601815C1866174OMIM1231458923606879
HP:0001510HP:0001510Growth delay3PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001510HP:0001510Growth delay3PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001510HP:0001510Growth delay3PIGH CL E G H5283618010GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17618010CN248527OMIM12148964600154
HP:0001510HP:0001510Growth delay3PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0001510HP:0001510Growth delay3PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12733046605938
HP:0001510HP:0001510Growth delay3PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0001510HP:0001510Growth delay3PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM11616723166610316
HP:0001510HP:0001510Growth delay3PPM1B CL E G H5495163693ORPHA11309276603770
HP:0001510HP:0001510Growth delay3PREPL CL E G H9581163693ORPHA11827030228609557
HP:0001510HP:0001510Growth delay3PREPL CL E G H9581163690ORPHA11827030228609557
HP:0001510HP:0001510Growth delay3PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322599462311850
HP:0001510HP:0001510Growth delay3RAD51 CL E G H5888617244Fanconi anemia, complementation group R617244C4284093OMIM116369817179617
HP:0001510HP:0001510Growth delay3RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161089891604124
HP:0001510HP:0001510Growth delay3RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM11417815864610924
HP:0001510HP:0001510Growth delay3RECQL4 CL E G H9401221016ORPHA112220289949603780
HP:0001510HP:0001510Growth delay3RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1516113429300379
HP:0001510HP:0001510Growth delay3RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15143229168610937
HP:0001510HP:0001510Growth delay3RPL5 CL E G H6125612561Aase syndrome612561C0265265OMIM17710010360603634
HP:0001510HP:0001510Growth delay3RPS10 CL E G H6204613308Diamond-Blackfan anemia 9613308C2750081OMIM155210383603632
HP:0001510HP:0001510Growth delay3SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0001510HP:0001510Growth delay3SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0001510HP:0001510Growth delay3SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM12026629242613293
HP:0001510HP:0001510Growth delay3SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0001510HP:0001510Growth delay3SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0001510HP:0001510Growth delay3SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15519210933604322
HP:0001510HP:0001510Growth delay3SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111522910983603859
HP:0001510HP:0001510Growth delay3SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0001510HP:0001510Growth delay3SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14022320305609826
HP:0001510HP:0001510Growth delay3SLC3A1 CL E G H6519163693ORPHA124121111025104614
HP:0001510HP:0001510Growth delay3SLC3A1 CL E G H6519163690ORPHA124121111025104614
HP:0001510HP:0001510Growth delay3SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
HP:0001510HP:0001510Growth delay3SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM11813811040601843
HP:0001510HP:0001510Growth delay3SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0001510HP:0001510Growth delay3SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0001510HP:0001510Growth delay3SNX10 CL E G H29887667ORPHA1134614974614780
HP:0001510HP:0001510Growth delay3SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0001510HP:0001510Growth delay3SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12510011257182125
HP:0001510HP:0001510Growth delay3SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12812011449611224
HP:0001510HP:0001510Growth delay3TAT CL E G H6898276600Tyrosinemia type 2276600C0268487OMIM13614011573613018
HP:0001510HP:0001510Growth delay3TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001510HP:0001510Growth delay3TBR1 CL E G H107161617ORPHA1187811590604616
HP:0001510HP:0001510Growth delay3TCIRG1 CL E G H10312667ORPHA113728911647604592
HP:0001510HP:0001510Growth delay3THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM1143411796190120
HP:0001510HP:0001510Growth delay3TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001510HP:0001510Growth delay3TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0001510HP:0001510Growth delay3TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117431628396609884
HP:0001510HP:0001510Growth delay3TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM117431628396609884
HP:0001510HP:0001510Growth delay3TNFSF11 CL E G H8600667ORPHA11611711926602642
HP:0001510HP:0001510Growth delay3TRHR CL E G H720199832ORPHA174912299188545
HP:0001510HP:0001510Growth delay3TSPYL1 CL E G H7259168593ORPHA183212382604714
HP:0001510HP:0001510Growth delay3TSPYL1 CL E G H7259608800Sudden infant death with dysgenesis of the testes syndrome608800C1837371OMIM183212382604714
HP:0001510HP:0001510Growth delay3UBE3B CL E G H899102707ORPHA1255413478608047
HP:0001510HP:0001510Growth delay3UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121726941610554
HP:0001510HP:0001510Growth delay3UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM112334399616097
HP:0001510HP:0001510Growth delay3VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001510HP:0001510Growth delay3VPS11 CL E G H55823466934ORPHA135414583608549
HP:0001510HP:0001510Growth delay3WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139371412762606201
HP:0001510HP:0001510Growth delay3WNT4 CL E G H54361139466ORPHA182912783603490
HP:0001510HP:0001510Growth delay3XRCC2 CL E G H7516617247Fanconi anemia, complementation group U617247C4310651OMIM12335812829600375
HP:0001510HP:0001510Growth delay3XRCC4 CL E G H751899812ORPHA1153712831194363
HP:0001510HP:0001510Growth delay3YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM11320324249610957
HP:0001510HP:0001510Growth delay3YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA14414612851605066
HP:0001510HP:0001510Growth delay3ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0001510HP:0001510Growth delay4ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM1813868603214
HP:0001510HP:0001510Growth delay4ACACA CL E G H31613933Acetyl-CoA: carboxylase deficiency613933C0268603OMIM1713484200350
HP:0001510HP:0001510Growth delay4ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001510HP:0001510Growth delay4ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001510HP:0001510Growth delay4ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001510HP:0001510Growth delay4AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001510HP:0001510Growth delay4AHCY CL E G H19188618ORPHA11594343180960
HP:0001510HP:0001510Growth delay4ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM164156430603741
HP:0001510HP:0001510Growth delay4ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM12213813743607206
HP:0001510HP:0001510Growth delay4ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0001510HP:0001510Growth delay4AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0001510HP:0001510Growth delay4ATP6V0A4 CL E G H50617602722Renal tubular acidosis, distal, autosomal recessive602722C1864498OMIM193173866605239
HP:0001510HP:0001510