Human Phenotype Ontology 
Grandparent Node:
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Abnormality of digestive system physiology (HP:0025032)help
Parent Node:
expand
Abdominal symptom (HP:0011458)help
..Starting node
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Feeding difficulties (HP:0011968)help
Term ID: 11968
Name: Feeding difficulties
Synonym: Feeding difficulties; Feeding problems; Poor feeding
Definition: Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Comments:
Reference: HP:0011968
Genes and Diseases:
 
       Child Nodes:
........expandFeeding difficulties in infancy (HP:0008872) help
................... HP:0002033 Poor suck
................... HP:0011469 Nasal regurgitation
................... HP:0011470 Nasogastric tube feeding in infancy
................... HP:0011471 Gastrostomy tube feeding in infancy
................... HP:0030884 Gastrojejunal tube feeding in infancy
........expandDelayed self-feeding during toddler years (HP:0012381) help
........expandNasogastric tube feeding (HP:0040288) help

 Sister Nodes: 
..expandAbdominal distention (HP:0003270) help
..expandAbdominal pain (HP:0002027) help
..expandAbnormal bowel sounds (HP:0030142) help
..expandAnorexia (HP:0002039) help
..expandConstipation (HP:0002019) help
..expandDiarrhea (HP:0002014) help
..expandMalnutrition (HP:0004395) help
..expandNausea and vomiting (HP:0002017) help
..expandPoor appetite (HP:0004396) help
..expandProtein avoidance (HP:0002038) help
..expandScaphoid abdomen (HP:0025063) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011968HP:0011968Feeding difficulties0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM189768603214
HP:0011968HP:0011968Feeding difficulties0ACADL CL E G H3399900ORPHA124688609576
HP:0011968HP:0011968Feeding difficulties0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217198129102610
HP:0011968HP:0011968Feeding difficulties0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165174132102630
HP:0011968HP:0011968Feeding difficulties0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148226144102560
HP:0011968HP:0011968Feeding difficulties0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16811415766611386
HP:0011968HP:0011968Feeding difficulties0AHI1 CL E G H54806220493ORPHA19627221575608894
HP:0011968HP:0011968Feeding difficulties0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1331929722138250
HP:0011968HP:0011968Feeding difficulties0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16587179603178
HP:0011968HP:0011968Feeding difficulties0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11410532456613666
HP:0011968HP:0011968Feeding difficulties0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11618519358607144
HP:0011968HP:0011968Feeding difficulties0ANKRD11 CL E G H291232332ORPHA113444921316611192
HP:0011968HP:0011968Feeding difficulties0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA1487621732608041
HP:0011968HP:0011968Feeding difficulties0AP1S2 CL E G H890585329ORPHA114191560300629
HP:0011968HP:0011968Feeding difficulties0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1426568607246
HP:0011968HP:0011968Feeding difficulties0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1629738100790
HP:0011968HP:0011968Feeding difficulties0ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1193719088607999
HP:0011968HP:0011968Feeding difficulties0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12752753108370
HP:0011968HP:0011968Feeding difficulties0ASXL1 CL E G H17102397297ORPHA14119418318612990
HP:0011968HP:0011968Feeding difficulties0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119418318612990
HP:0011968HP:0011968Feeding difficulties0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15012629357615115
HP:0011968HP:0011968Feeding difficulties0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11714525567612316
HP:0011968HP:0011968Feeding difficulties0ATP6V0A2 CL E G H23545357074ORPHA15622618481611716
HP:0011968HP:0011968Feeding difficulties0ATP6V1A CL E G H523357074ORPHA1933851607027
HP:0011968HP:0011968Feeding difficulties0ATP6V1E1 CL E G H529357074ORPHA1261857108746
HP:0011968HP:0011968Feeding difficulties0ATXN7 CL E G H631494147ORPHA162410560607640
HP:0011968HP:0011968Feeding difficulties0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16213614262607270
HP:0011968HP:0011968Feeding difficulties0BPTF CL E G H2186529962ORPHA114403581601819
HP:0011968HP:0011968Feeding difficulties0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11829921701614506
HP:0011968HP:0011968Feeding difficulties0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM1186614255602410
HP:0011968HP:0011968Feeding difficulties0CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14151371603263
HP:0011968HP:0011968Feeding difficulties0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111431461607707
HP:0011968HP:0011968Feeding difficulties0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1423925695612800
HP:0011968HP:0011968Feeding difficulties0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115599688603198
HP:0011968HP:0011968Feeding difficulties0CDC45 CL E G H83182554ORPHA1193541739603465
HP:0011968HP:0011968Feeding difficulties0CDC6 CL E G H9902554ORPHA14411744602627
HP:0011968HP:0011968Feeding difficulties0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0011968HP:0011968Feeding difficulties0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM122571733603309
HP:0011968HP:0011968Feeding difficulties0CDT1 CL E G H816202554ORPHA11212424576605525
HP:0011968HP:0011968Feeding difficulties0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0011968HP:0011968Feeding difficulties0CEP120 CL E G H153241220493ORPHA196226690613446
HP:0011968HP:0011968Feeding difficulties0CEP41 CL E G H95681220493ORPHA11113212370610523
HP:0011968HP:0011968Feeding difficulties0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11712320311616327
HP:0011968HP:0011968Feeding difficulties0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM188490520626608892
HP:0011968HP:0011968Feeding difficulties0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1361721955100690
HP:0011968HP:0011968Feeding difficulties0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1111291961100710
HP:0011968HP:0011968Feeding difficulties0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties0CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA141717412607672
HP:0011968HP:0011968Feeding difficulties0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12513530664616254
HP:0011968HP:0011968Feeding difficulties0COG4 CL E G H25839263501ORPHA1613518620606976
HP:0011968HP:0011968Feeding difficulties0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1512218622606978
HP:0011968HP:0011968Feeding difficulties0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13232190120350
HP:0011968HP:0011968Feeding difficulties0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15362244601683
HP:0011968HP:0011968Feeding difficulties0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM158125302612837
HP:0011968HP:0011968Feeding difficulties0CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA137372364604237
HP:0011968HP:0011968Feeding difficulties0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM120812457115440
HP:0011968HP:0011968Feeding difficulties0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1187113723604167
HP:0011968HP:0011968Feeding difficulties0CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM171610664617170
HP:0011968HP:0011968Feeding difficulties0CYP11A1 CL E G H1583168558ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties0CYP11A1 CL E G H1583289548ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties0DCHS1 CL E G H8642601390601390601390OMIM1246513681603057
HP:0011968HP:0011968Feeding difficulties0DCX CL E G H16412148ORPHA11423142714300121
HP:0011968HP:0011968Feeding difficulties0DHCR24 CL E G H171835107ORPHA110882859606418
HP:0011968HP:0011968Feeding difficulties0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM19692861126060
HP:0011968HP:0011968Feeding difficulties0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1231412898238331
HP:0011968HP:0011968Feeding difficulties0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1231412898238331
HP:0011968HP:0011968Feeding difficulties0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202112973603850
HP:0011968HP:0011968Feeding difficulties0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19139964601671
HP:0011968HP:0011968Feeding difficulties0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12743006603564
HP:0011968HP:0011968Feeding difficulties0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM194141090113810
HP:0011968HP:0011968Feeding difficulties0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM121913178131242
HP:0011968HP:0011968Feeding difficulties0EFTUD2 CL E G H934379113ORPHA11017730858603892
HP:0011968HP:0011968Feeding difficulties0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM122518683608546
HP:0011968HP:0011968Feeding difficulties0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0011968HP:0011968Feeding difficulties0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11910917944606489
HP:0011968HP:0011968Feeding difficulties0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM134317035606019
HP:0011968HP:0011968Feeding difficulties0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0011968HP:0011968Feeding difficulties0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12419021062611592
HP:0011968HP:0011968Feeding difficulties0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13723223109612411
HP:0011968HP:0011968Feeding difficulties0FBN1 CL E G H2200284979ORPHA1272131543603134797
HP:0011968HP:0011968Feeding difficulties0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM110643668601513
HP:0011968HP:0011968Feeding difficulties0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM1103524671610595
HP:0011968HP:0011968Feeding difficulties0FOXE1 CL E G H230495713ORPHA131423806602617
HP:0011968HP:0011968Feeding difficulties0FOXG1 CL E G H2290261144ORPHA11692843811164874
HP:0011968HP:0011968Feeding difficulties0GALT CL E G H259279239ORPHA13374914135606999
HP:0011968HP:0011968Feeding difficulties0GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA1851214174601656
HP:0011968HP:0011968Feeding difficulties0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14941594177606463
HP:0011968HP:0011968Feeding difficulties0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM111834232600837
HP:0011968HP:0011968Feeding difficulties0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11913813780606639
HP:0011968HP:0011968Feeding difficulties0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1501904241138292
HP:0011968HP:0011968Feeding difficulties0GMNN CL E G H510532554ORPHA131317493602842
HP:0011968HP:0011968Feeding difficulties0GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM1125822923615495
HP:0011968HP:0011968Feeding difficulties0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14910522932615320
HP:0011968HP:0011968Feeding difficulties0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14910522932615320
HP:0011968HP:0011968Feeding difficulties0GNB1 CL E G H2782488613ORPHA1241484396139380
HP:0011968HP:0011968Feeding difficulties0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM12016015465603930
HP:0011968HP:0011968Feeding difficulties0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1392994584138249
HP:0011968HP:0011968Feeding difficulties0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12184588602717
HP:0011968HP:0011968Feeding difficulties0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17224612138890
HP:0011968HP:0011968Feeding difficulties0GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM1157114880608536
HP:0011968HP:0011968Feeding difficulties0HBB CL E G H3043231214ORPHA18717484827141900
HP:0011968HP:0011968Feeding difficulties0HESX1 CL E G H8820226307ORPHA127384877601802
HP:0011968HP:0011968Feeding difficulties0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119724908610690
HP:0011968HP:0011968Feeding difficulties0HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM122426938614908
HP:0011968HP:0011968Feeding difficulties0HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM115464921143054
HP:0011968HP:0011968Feeding difficulties0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141625042300610
HP:0011968HP:0011968Feeding difficulties0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115535044600712
HP:0011968HP:0011968Feeding difficulties0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16185111142968
HP:0011968HP:0011968Feeding difficulties0HPCA CL E G H320899657ORPHA16165144142622
HP:0011968HP:0011968Feeding difficulties0HSD3B2 CL E G H328490791ORPHA163555218613890
HP:0011968HP:0011968Feeding difficulties0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181074851613004
HP:0011968HP:0011968Feeding difficulties0IDUA CL E G H342593473ORPHA12914305391252800
HP:0011968HP:0011968Feeding difficulties0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM145818550609382
HP:0011968HP:0011968Feeding difficulties0IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12813818873606951
HP:0011968HP:0011968Feeding difficulties0INPP5E CL E G H56623220493ORPHA15420021474613037
HP:0011968HP:0011968Feeding difficulties0KAT6A CL E G H7994457193ORPHA12917013013601408
HP:0011968HP:0011968Feeding difficulties0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12917013013601408
HP:0011968HP:0011968Feeding difficulties0KAT6B CL E G H235223047ORPHA17623917582605880
HP:0011968HP:0011968Feeding difficulties0KCNQ2 CL E G H3785439218ORPHA13148126296602235
HP:0011968HP:0011968Feeding difficulties0KDM6A CL E G H74032322ORPHA18125512637300128
HP:0011968HP:0011968Feeding difficulties0KIF1A CL E G H5472836ORPHA143742888601255
HP:0011968HP:0011968Feeding difficulties0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1691626323602821
HP:0011968HP:0011968Feeding difficulties0KLHL7 CL E G H5597597297ORPHA1148315646611119
HP:0011968HP:0011968Feeding difficulties0KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM1148315646611119
HP:0011968HP:0011968Feeding difficulties0KMT2A CL E G H4297319182ORPHA11271967132159555
HP:0011968HP:0011968Feeding difficulties0KMT2D CL E G H80852322ORPHA171210707133602113
HP:0011968HP:0011968Feeding difficulties0KRAS CL E G H38453339ORPHA1452626407190070
HP:0011968HP:0011968Feeding difficulties0LAMA3 CL E G H390979404ORPHA1552806483600805
HP:0011968HP:0011968Feeding difficulties0LAMB3 CL E G H391479404ORPHA11212366490150310
HP:0011968HP:0011968Feeding difficulties0LAMC2 CL E G H391879404ORPHA1412006493150292
HP:0011968HP:0011968Feeding difficulties0LHX3 CL E G H8022226307ORPHA1181136595600577
HP:0011968HP:0011968Feeding difficulties0LHX4 CL E G H89884226307ORPHA1238221734602146
HP:0011968HP:0011968Feeding difficulties0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1812716429607031
HP:0011968HP:0011968Feeding difficulties0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1321936597151443
HP:0011968HP:0011968Feeding difficulties0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM132521205609791
HP:0011968HP:0011968Feeding difficulties0LMNA CL E G H4000157973ORPHA15749186636150330
HP:0011968HP:0011968Feeding difficulties0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1342236696604270
HP:0011968HP:0011968Feeding difficulties0LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM158421365613311
HP:0011968HP:0011968Feeding difficulties0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1203876814605283
HP:0011968HP:0011968Feeding difficulties0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113416859602614
HP:0011968HP:0011968Feeding difficulties0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM166225133609728
HP:0011968HP:0011968Feeding difficulties0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12618815455300294
HP:0011968HP:0011968Feeding difficulties0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11171556937609014
HP:0011968HP:0011968Feeding difficulties0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19446971154100
HP:0011968HP:0011968Feeding difficulties0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13455111957300188
HP:0011968HP:0011968Feeding difficulties0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14422375603810
HP:0011968HP:0011968Feeding difficulties0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM18857104602241
HP:0011968HP:0011968Feeding difficulties0MKS1 CL E G H54903220493ORPHA1522497121609883
HP:0011968HP:0011968Feeding difficulties0MMUT CL E G H459479312ORPHA13367526609058
HP:0011968HP:0011968Feeding difficulties0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM116697193603708
HP:0011968HP:0011968Feeding difficulties0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM143910379607118
HP:0011968HP:0011968Feeding difficulties0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145316618611994
HP:0011968HP:0011968Feeding difficulties0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM12610119261614667
HP:0011968HP:0011968Feeding difficulties0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100218397577160760
HP:0011968HP:0011968Feeding difficulties0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM131337578160741
HP:0011968HP:0011968Feeding difficulties0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM174333778615345
HP:0011968HP:0011968Feeding difficulties0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16297608604875
HP:0011968HP:0011968Feeding difficulties0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM132820967610672
HP:0011968HP:0011968Feeding difficulties0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16516319082611549
HP:0011968HP:0011968Feeding difficulties0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM1147626274612803
HP:0011968HP:0011968Feeding difficulties0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM187528086609653
HP:0011968HP:0011968Feeding difficulties0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132120117720161650
HP:0011968HP:0011968Feeding difficulties0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM115724539611623
HP:0011968HP:0011968Feeding difficulties0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14131729433300524
HP:0011968HP:0011968Feeding difficulties0NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM1156816287608100
HP:0011968HP:0011968Feeding difficulties0NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0011968HP:0011968Feeding difficulties0NKX2-1 CL E G H708095713ORPHA11439611825600635
HP:0011968HP:0011968Feeding difficulties0NKX2-5 CL E G H148295713ORPHA11121712488600584
HP:0011968HP:0011968Feeding difficulties0NPHP1 CL E G H4867220497ORPHA1793287905607100
HP:0011968HP:0011968Feeding difficulties0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1761467979600983
HP:0011968HP:0011968Feeding difficulties0NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM13458338008600565
HP:0011968HP:0011968Feeding difficulties0NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM121147677608243
HP:0011968HP:0011968Feeding difficulties0ORC1 CL E G H49982554ORPHA112658487601902
HP:0011968HP:0011968Feeding difficulties0ORC4 CL E G H50002554ORPHA16728490603056
HP:0011968HP:0011968Feeding difficulties0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16728490603056
HP:0011968HP:0011968Feeding difficulties0ORC6 CL E G H235942554ORPHA166717151607213
HP:0011968HP:0011968Feeding difficulties0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM166717151607213
HP:0011968HP:0011968Feeding difficulties0OTUD6B CL E G H51633505237ORPHA163724281612021
HP:0011968HP:0011968Feeding difficulties0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM163724281612021
HP:0011968HP:0011968Feeding difficulties0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM126830032607492
HP:0011968HP:0011968Feeding difficulties0PAX8 CL E G H784995713ORPHA151778622167415
HP:0011968HP:0011968Feeding difficulties0PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM169823041610564
HP:0011968HP:0011968Feeding difficulties0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1101338855601789
HP:0011968HP:0011968Feeding difficulties0PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM151278856601791
HP:0011968HP:0011968Feeding difficulties0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12720622965608666
HP:0011968HP:0011968Feeding difficulties0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM110818858603164
HP:0011968HP:0011968Feeding difficulties0PHGDH CL E G H2622779351ORPHA123808923606879
HP:0011968HP:0011968Feeding difficulties0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1882239143603851
HP:0011968HP:0011968Feeding difficulties0PIEZO2 CL E G H638952461ORPHA13219426270613629
HP:0011968HP:0011968Feeding difficulties0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12663046605938
HP:0011968HP:0011968Feeding difficulties0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122028213610662
HP:0011968HP:0011968Feeding difficulties0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM11792009039603604
HP:0011968HP:0011968Feeding difficulties0PLAA CL E G H9373521426ORPHA13739043603873
HP:0011968HP:0011968Feeding difficulties0PNPO CL E G H5516379096ORPHA13114030260603287
HP:0011968HP:0011968Feeding difficulties0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15416718801614787
HP:0011968HP:0011968Feeding difficulties0POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19219430074614258
HP:0011968HP:0011968Feeding difficulties0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1810826267615247
HP:0011968HP:0011968Feeding difficulties0POU1F1 CL E G H5449226307ORPHA146649210173110
HP:0011968HP:0011968Feeding difficulties0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163609277605100
HP:0011968HP:0011968Feeding difficulties0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11814230228609557
HP:0011968HP:0011968Feeding difficulties0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18269407605435
HP:0011968HP:0011968Feeding difficulties0PROP1 CL E G H5626226307ORPHA1421199455601538
HP:0011968HP:0011968Feeding difficulties0PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1271469498176801
HP:0011968HP:0011968Feeding difficulties0PSMD12 CL E G H5718529962ORPHA110259557604450
HP:0011968HP:0011968Feeding difficulties0PSPH CL E G H572379350ORPHA19809577172480
HP:0011968HP:0011968Feeding difficulties0PTCH1 CL E G H572777301ORPHA152913809585601309
HP:0011968HP:0011968Feeding difficulties0PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM1329117042604819
HP:0011968HP:0011968Feeding difficulties0PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1481429701600473
HP:0011968HP:0011968Feeding difficulties0RAP1A CL E G H59062322ORPHA12119855179520
HP:0011968HP:0011968Feeding difficulties0RAP1B CL E G H59082322ORPHA11129857179530
HP:0011968HP:0011968Feeding difficulties0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM1601439863601592
HP:0011968HP:0011968Feeding difficulties0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM125979965605226
HP:0011968HP:0011968Feeding difficulties0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143210659967164761
HP:0011968HP:0011968Feeding difficulties0RFT1 CL E G H91869244310ORPHA11311930220611908
HP:0011968HP:0011968Feeding difficulties0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11311930220611908
HP:0011968HP:0011968Feeding difficulties0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1514913429300379
HP:0011968HP:0011968Feeding difficulties0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1168021176614917
HP:0011968HP:0011968Feeding difficulties0RNASEH1 CL E G H246243329336ORPHA144718466604123
HP:0011968HP:0011968Feeding difficulties0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM1218018518606034
HP:0011968HP:0011968Feeding difficulties0RPGRIP1L CL E G H23322220497ORPHA15125529168610937
HP:0011968HP:0011968Feeding difficulties0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM11910418603685
HP:0011968HP:0011968Feeding difficulties0RRM2B CL E G H50484329336ORPHA14318117296604712
HP:0011968HP:0011968Feeding difficulties0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM14318117296604712
HP:0011968HP:0011968Feeding difficulties0RYR1 CL E G H626198905ORPHA1688238210483180901
HP:0011968HP:0011968Feeding difficulties0RYR1 CL E G H6261424107ORPHA1688238210483180901
HP:0011968HP:0011968Feeding difficulties0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688238210483180901
HP:0011968HP:0011968Feeding difficulties0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1510617697612804
HP:0011968HP:0011968Feeding difficulties0SATB2 CL E G H23314251019ORPHA110618421637608148
HP:0011968HP:0011968Feeding difficulties0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11920410590182391
HP:0011968HP:0011968Feeding difficulties0SCN4A CL E G H6329684ORPHA112957910591603967
HP:0011968HP:0011968Feeding difficulties0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM112957910591603967
HP:0011968HP:0011968Feeding difficulties0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16324215999606210
HP:0011968HP:0011968Feeding difficulties0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM147710727608166
HP:0011968HP:0011968Feeding difficulties0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15211221061614725
HP:0011968HP:0011968Feeding difficulties0SHANK3 CL E G H8535848652ORPHA119429214294606230
HP:0011968HP:0011968Feeding difficulties0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119429214294606230
HP:0011968HP:0011968Feeding difficulties0SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM1724411142605705
HP:0011968HP:0011968Feeding difficulties0SLC16A1 CL E G H6566616095Monocarboxylate transporter 1 deficiency616095C4015186OMIM1149510922600682
HP:0011968HP:0011968Feeding difficulties0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM166610936600336
HP:0011968HP:0011968Feeding difficulties0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM12438310979190315
HP:0011968HP:0011968Feeding difficulties0SLC25A19 CL E G H6038699742ORPHA187514409606521
HP:0011968HP:0011968Feeding difficulties0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM122820662608744
HP:0011968HP:0011968Feeding difficulties0SLC26A4 CL E G H517295713ORPHA15644518818605646
HP:0011968HP:0011968Feeding difficulties0SLC6A3 CL E G H6531238455ORPHA14619511049126455
HP:0011968HP:0011968Feeding difficulties0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14619511049126455
HP:0011968HP:0011968Feeding difficulties0SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157172711100603254
HP:0011968HP:0011968Feeding difficulties0SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111934211103601607
HP:0011968HP:0011968Feeding difficulties0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11315911109603111
HP:0011968HP:0011968Feeding difficulties0SMC1A CL E G H8243319182ORPHA110035011111300040
HP:0011968HP:0011968Feeding difficulties0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM111730587608241
HP:0011968HP:0011968Feeding difficulties0SNRPB CL E G H66281393ORPHA173211153182282
HP:0011968HP:0011968Feeding difficulties0SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1133514974614780
HP:0011968HP:0011968Feeding difficulties0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12810711183182465
HP:0011968HP:0011968Feeding difficulties0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM12814718119613940
HP:0011968HP:0011968Feeding difficulties0SSR4 CL E G H6748370927ORPHA1723111326300090
HP:0011968HP:0011968Feeding difficulties0SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1723111326300090
HP:0011968HP:0011968Feeding difficulties0ST3GAL5 CL E G H8869370938ORPHA179910872604402
HP:0011968HP:0011968Feeding difficulties0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM144928423615521
HP:0011968HP:0011968Feeding difficulties0STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM1225311354604358
HP:0011968HP:0011968Feeding difficulties0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM157430172608626
HP:0011968HP:0011968Feeding difficulties0STT3A CL E G H3703370921ORPHA13806172601134
HP:0011968HP:0011968Feeding difficulties0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM13806172601134
HP:0011968HP:0011968Feeding difficulties0STT3B CL E G H201595370924ORPHA154530611608605
HP:0011968HP:0011968Feeding difficulties0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM154530611608605
HP:0011968HP:0011968Feeding difficulties0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12810011449611224
HP:0011968HP:0011968Feeding difficulties0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12724711503604297
HP:0011968HP:0011968Feeding difficulties0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM192211509185605
HP:0011968HP:0011968Feeding difficulties0TBC1D24 CL E G H57465352596ORPHA15643829203613577
HP:0011968HP:0011968Feeding difficulties0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM1238611581604649
HP:0011968HP:0011968Feeding difficulties0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114846411634602272
HP:0011968HP:0011968Feeding difficulties0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1128124519613847
HP:0011968HP:0011968Feeding difficulties0TH CL E G H7054101150ORPHA17722011782191290
HP:0011968HP:0011968Feeding difficulties0THRA CL E G H706797927ORPHA1142211796190120
HP:0011968HP:0011968Feeding difficulties0THRB CL E G H706897927ORPHA117122411799190160
HP:0011968HP:0011968Feeding difficulties0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1394711842608439
HP:0011968HP:0011968Feeding difficulties0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM152818188614123
HP:0011968HP:0011968Feeding difficulties0TMEM237 CL E G H65062220497ORPHA11112614432614423
HP:0011968HP:0011968Feeding difficulties0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14016312011190990
HP:0011968HP:0011968Feeding difficulties0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12814412012191030
HP:0011968HP:0011968Feeding difficulties0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11723225751614138
HP:0011968HP:0011968Feeding difficulties0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM133724284614139
HP:0011968HP:0011968Feeding difficulties0TRHR CL E G H720199832ORPHA174112299188545
HP:0011968HP:0011968Feeding difficulties0TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM121426022615423
HP:0011968HP:0011968Feeding difficulties0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1512828422608753
HP:0011968HP:0011968Feeding difficulties0TSHB CL E G H725290674ORPHA1141812372188540
HP:0011968HP:0011968Feeding difficulties0TSHR CL E G H725395713ORPHA116111812373603372
HP:0011968HP:0011968Feeding difficulties0TSHR CL E G H725390673ORPHA116111812373603372
HP:0011968HP:0011968Feeding difficulties0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM143117772609063
HP:0011968HP:0011968Feeding difficulties0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1183323230610552
HP:0011968HP:0011968Feeding difficulties0UBE3B CL E G H899102707ORPHA1252813478608047
HP:0011968HP:0011968Feeding difficulties0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM131912511600673
HP:0011968HP:0011968Feeding difficulties0UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121526941610554
HP:0011968HP:0011968Feeding difficulties0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1267326582612636
HP:0011968HP:0011968Feeding difficulties0UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM111934399616097
HP:0011968HP:0011968Feeding difficulties0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12820512632300072
HP:0011968HP:0011968Feeding difficulties0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1142512730604733
HP:0011968HP:0011968Feeding difficulties0WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1344621208617424
HP:0011968HP:0011968Feeding difficulties0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11716524931300897
HP:0011968HP:0011968Feeding difficulties0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM143012933601897
HP:0011968HP:0011968Feeding difficulties0ZNHIT3 CL E G H93262836ORPHA119212309604500
HP:0011968HP:0011968Feeding difficulties0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM123629316615951
HP:0011968HP:0011968Feeding difficulties1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM189768603214
HP:0011968HP:0011968Feeding difficulties1ACADL CL E G H3399900ORPHA124688609576
HP:0011968HP:0011968Feeding difficulties1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217198129102610
HP:0011968HP:0011968Feeding difficulties1ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165174132102630
HP:0011968HP:0011968Feeding difficulties1ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148226144102560
HP:0011968HP:0011968Feeding difficulties1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16811415766611386
HP:0011968HP:0011968Feeding difficulties1AHI1 CL E G H54806220493ORPHA19627221575608894
HP:0011968HP:0011968Feeding difficulties1ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1331929722138250
HP:0011968HP:0011968Feeding difficulties1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16587179603178
HP:0011968HP:0011968Feeding difficulties1ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11410532456613666
HP:0011968HP:0011968Feeding difficulties1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11618519358607144
HP:0011968HP:0011968Feeding difficulties1ANKRD11 CL E G H291232332ORPHA113444921316611192
HP:0011968HP:0011968Feeding difficulties1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA1487621732608041
HP:0011968HP:0011968Feeding difficulties1AP1S2 CL E G H890585329ORPHA114191560300629
HP:0011968HP:0011968Feeding difficulties1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1426568607246
HP:0011968HP:0011968Feeding difficulties1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1629738100790
HP:0011968HP:0011968Feeding difficulties1ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1193719088607999
HP:0011968HP:0011968Feeding difficulties1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12752753108370
HP:0011968HP:0011968Feeding difficulties1ASXL1 CL E G H17102397297ORPHA14119418318612990
HP:0011968HP:0011968Feeding difficulties1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119418318612990
HP:0011968HP:0011968Feeding difficulties1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15012629357615115
HP:0011968HP:0011968Feeding difficulties1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11714525567612316
HP:0011968HP:0011968Feeding difficulties1ATP6V0A2 CL E G H23545357074ORPHA15622618481611716
HP:0011968HP:0011968Feeding difficulties1ATP6V1A CL E G H523357074ORPHA1933851607027
HP:0011968HP:0011968Feeding difficulties1ATP6V1E1 CL E G H529357074ORPHA1261857108746
HP:0011968HP:0011968Feeding difficulties1ATXN7 CL E G H631494147ORPHA162410560607640
HP:0011968HP:0011968Feeding difficulties1AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16213614262607270
HP:0011968HP:0011968Feeding difficulties1BPTF CL E G H2186529962ORPHA114403581601819
HP:0011968HP:0011968Feeding difficulties1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11829921701614506
HP:0011968HP:0011968Feeding difficulties1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM1186614255602410
HP:0011968HP:0011968Feeding difficulties1CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14151371603263
HP:0011968HP:0011968Feeding difficulties1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111431461607707
HP:0011968HP:0011968Feeding difficulties1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1423925695612800
HP:0011968HP:0011968Feeding difficulties1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115599688603198
HP:0011968HP:0011968Feeding difficulties1CDC45 CL E G H83182554ORPHA1193541739603465
HP:0011968HP:0011968Feeding difficulties1CDC6 CL E G H9902554ORPHA14411744602627
HP:0011968HP:0011968Feeding difficulties1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0011968HP:0011968Feeding difficulties1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM122571733603309
HP:0011968HP:0011968Feeding difficulties1CDT1 CL E G H816202554ORPHA11212424576605525
HP:0011968HP:0011968Feeding difficulties1CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0011968HP:0011968Feeding difficulties1CEP120 CL E G H153241220493ORPHA196226690613446
HP:0011968HP:0011968Feeding difficulties1CEP41 CL E G H95681220493ORPHA11113212370610523
HP:0011968HP:0011968Feeding difficulties1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11712320311616327
HP:0011968HP:0011968Feeding difficulties1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM188490520626608892
HP:0011968HP:0011968Feeding difficulties1CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1361721955100690
HP:0011968HP:0011968Feeding difficulties1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1111291961100710
HP:0011968HP:0011968Feeding difficulties1CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties1CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties1CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties1CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA141717412607672
HP:0011968HP:0011968Feeding difficulties1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12513530664616254
HP:0011968HP:0011968Feeding difficulties1COG4 CL E G H25839263501ORPHA1613518620606976
HP:0011968HP:0011968Feeding difficulties1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1512218622606978
HP:0011968HP:0011968Feeding difficulties1COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13232190120350
HP:0011968HP:0011968Feeding difficulties1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15362244601683
HP:0011968HP:0011968Feeding difficulties1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM158125302612837
HP:0011968HP:0011968Feeding difficulties1CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA137372364604237
HP:0011968HP:0011968Feeding difficulties1CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM120812457115440
HP:0011968HP:0011968Feeding difficulties1CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1187113723604167
HP:0011968HP:0011968Feeding difficulties1CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM171610664617170
HP:0011968HP:0011968Feeding difficulties1CYP11A1 CL E G H1583168558ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties1CYP11A1 CL E G H1583289548ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties1DCHS1 CL E G H8642601390601390601390OMIM1246513681603057
HP:0011968HP:0011968Feeding difficulties1DCX CL E G H16412148ORPHA11423142714300121
HP:0011968HP:0011968Feeding difficulties1DHCR24 CL E G H171835107ORPHA110882859606418
HP:0011968HP:0011968Feeding difficulties1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM19692861126060
HP:0011968HP:0011968Feeding difficulties1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1231412898238331
HP:0011968HP:0011968Feeding difficulties1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1231412898238331
HP:0011968HP:0011968Feeding difficulties1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202112973603850
HP:0011968HP:0011968Feeding difficulties1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19139964601671
HP:0011968HP:0011968Feeding difficulties1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12743006603564
HP:0011968HP:0011968Feeding difficulties1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM194141090113810
HP:0011968HP:0011968Feeding difficulties1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM121913178131242
HP:0011968HP:0011968Feeding difficulties1EFTUD2 CL E G H934379113ORPHA11017730858603892
HP:0011968HP:0011968Feeding difficulties1EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM122518683608546
HP:0011968HP:0011968Feeding difficulties1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0011968HP:0011968Feeding difficulties1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11910917944606489
HP:0011968HP:0011968Feeding difficulties1EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM134317035606019
HP:0011968HP:0011968Feeding difficulties1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0011968HP:0011968Feeding difficulties1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12419021062611592
HP:0011968HP:0011968Feeding difficulties1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13723223109612411
HP:0011968HP:0011968Feeding difficulties1FBN1 CL E G H2200284979ORPHA1272131543603134797
HP:0011968HP:0011968Feeding difficulties1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM110643668601513
HP:0011968HP:0011968Feeding difficulties1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM1103524671610595
HP:0011968HP:0011968Feeding difficulties1FOXE1 CL E G H230495713ORPHA131423806602617
HP:0011968HP:0011968Feeding difficulties1FOXG1 CL E G H2290261144ORPHA11692843811164874
HP:0011968HP:0011968Feeding difficulties1GALT CL E G H259279239ORPHA13374914135606999
HP:0011968HP:0011968Feeding difficulties1GATA6 CL E G H26272255Familial non-immune hyperthyroidismORPHA1851214174601656
HP:0011968HP:0011968Feeding difficulties1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14941594177606463
HP:0011968HP:0011968Feeding difficulties1GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM111834232600837
HP:0011968HP:0011968Feeding difficulties1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11913813780606639
HP:0011968HP:0011968Feeding difficulties1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1501904241138292
HP:0011968HP:0011968Feeding difficulties1GMNN CL E G H510532554ORPHA131317493602842
HP:0011968HP:0011968Feeding difficulties1GMPPA CL E G H29926615510Alacrima, achalasia, and mental retardation syndrome615510C3809738OMIM1125822923615495
HP:0011968HP:0011968Feeding difficulties1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14910522932615320
HP:0011968HP:0011968Feeding difficulties1GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM14910522932615320
HP:0011968HP:0011968Feeding difficulties1GNB1 CL E G H2782488613ORPHA1241484396139380
HP:0011968HP:0011968Feeding difficulties1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM12016015465603930
HP:0011968HP:0011968Feeding difficulties1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM1392994584138249
HP:0011968HP:0011968Feeding difficulties1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12184588602717
HP:0011968HP:0011968Feeding difficulties1GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17224612138890
HP:0011968HP:0011968Feeding difficulties1GTPBP3 CL E G H84705616198Combined oxidative phosphorylation deficiency 23616198C4015447OMIM1157114880608536
HP:0011968HP:0011968Feeding difficulties1HBB CL E G H3043231214ORPHA18717484827141900
HP:0011968HP:0011968Feeding difficulties1HESX1 CL E G H8820226307ORPHA127384877601802
HP:0011968HP:0011968Feeding difficulties1HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119724908610690
HP:0011968HP:0011968Feeding difficulties1HIKESHI CL E G H51501616881Leukodystrophy, hypomyelinating, 13616881C4225170OMIM122426938614908
HP:0011968HP:0011968Feeding difficulties1HIVEP2 CL E G H3097616977Mental retardation, autosomal dominant 43616977C4310771OMIM115464921143054
HP:0011968HP:0011968Feeding difficulties1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141625042300610
HP:0011968HP:0011968Feeding difficulties1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115535044600712
HP:0011968HP:0011968Feeding difficulties1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM16185111142968
HP:0011968HP:0011968Feeding difficulties1HPCA CL E G H320899657ORPHA16165144142622
HP:0011968HP:0011968Feeding difficulties1HSD3B2 CL E G H328490791ORPHA163555218613890
HP:0011968HP:0011968Feeding difficulties1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM181074851613004
HP:0011968HP:0011968Feeding difficulties1IDUA CL E G H342593473ORPHA12914305391252800
HP:0011968HP:0011968Feeding difficulties1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM145818550609382
HP:0011968HP:0011968Feeding difficulties1IFIH1 CL E G H64135615846Aicardi-Goutieres syndrome 7615846C3888244OMIM12813818873606951
HP:0011968HP:0011968Feeding difficulties1INPP5E CL E G H56623220493ORPHA15420021474613037
HP:0011968HP:0011968Feeding difficulties1KAT6A CL E G H7994457193ORPHA12917013013601408
HP:0011968HP:0011968Feeding difficulties1KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12917013013601408
HP:0011968HP:0011968Feeding difficulties1KAT6B CL E G H235223047ORPHA17623917582605880
HP:0011968HP:0011968Feeding difficulties1KCNQ2 CL E G H3785439218ORPHA13148126296602235
HP:0011968HP:0011968Feeding difficulties1KDM6A CL E G H74032322ORPHA18125512637300128
HP:0011968HP:0011968Feeding difficulties1KIF1A CL E G H5472836ORPHA143742888601255
HP:0011968HP:0011968Feeding difficulties1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1691626323602821
HP:0011968HP:0011968Feeding difficulties1KLHL7 CL E G H5597597297ORPHA1148315646611119
HP:0011968HP:0011968Feeding difficulties1KLHL7 CL E G H55975617055Cold-induced sweating syndrome 3617055C4310742OMIM1148315646611119
HP:0011968HP:0011968Feeding difficulties1KMT2A CL E G H4297319182ORPHA11271967132159555
HP:0011968HP:0011968Feeding difficulties1KMT2D CL E G H80852322ORPHA171210707133602113
HP:0011968HP:0011968Feeding difficulties1KRAS CL E G H38453339ORPHA1452626407190070
HP:0011968HP:0011968Feeding difficulties1LAMA3 CL E G H390979404ORPHA1552806483600805
HP:0011968HP:0011968Feeding difficulties1LAMB3 CL E G H391479404ORPHA11212366490150310
HP:0011968HP:0011968Feeding difficulties1LAMC2 CL E G H391879404ORPHA1412006493150292
HP:0011968HP:0011968Feeding difficulties1LHX3 CL E G H8022226307ORPHA1181136595600577
HP:0011968HP:0011968Feeding difficulties1LHX4 CL E G H89884226307ORPHA1238221734602146
HP:0011968HP:0011968Feeding difficulties1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1812716429607031
HP:0011968HP:0011968Feeding difficulties1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1321936597151443
HP:0011968HP:0011968Feeding difficulties1LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM132521205609791
HP:0011968HP:0011968Feeding difficulties1LMNA CL E G H4000157973ORPHA15749186636150330
HP:0011968HP:0011968Feeding difficulties1LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1342236696604270
HP:0011968HP:0011968Feeding difficulties1LYRM4 CL E G H57128615595Combined oxidative phosphorylation deficiency 19615595C3810055OMIM158421365613311
HP:0011968HP:0011968Feeding difficulties1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1203876814605283
HP:0011968HP:0011968Feeding difficulties1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113416859602614
HP:0011968HP:0011968Feeding difficulties1MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM166225133609728
HP:0011968HP:0011968Feeding difficulties1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12618815455300294
HP:0011968HP:0011968Feeding difficulties1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11171556937609014
HP:0011968HP:0011968Feeding difficulties1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19446971154100
HP:0011968HP:0011968Feeding difficulties1MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM13455111957300188
HP:0011968HP:0011968Feeding difficulties1MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14422375603810
HP:0011968HP:0011968Feeding difficulties1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM18857104602241
HP:0011968HP:0011968Feeding difficulties1MKS1 CL E G H54903220493ORPHA1522497121609883
HP:0011968HP:0011968Feeding difficulties1MMUT CL E G H459479312ORPHA13367526609058
HP:0011968HP:0011968Feeding difficulties1MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM116697193603708
HP:0011968HP:0011968Feeding difficulties1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM143910379607118
HP:0011968HP:0011968Feeding difficulties1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM145316618611994
HP:0011968HP:0011968Feeding difficulties1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM12610119261614667
HP:0011968HP:0011968Feeding difficulties1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100218397577160760
HP:0011968HP:0011968Feeding difficulties1MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM131337578160741
HP:0011968HP:0011968Feeding difficulties1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM174333778615345
HP:0011968HP:0011968Feeding difficulties1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM16297608604875
HP:0011968HP:0011968Feeding difficulties1NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM132820967610672
HP:0011968HP:0011968Feeding difficulties1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16516319082611549
HP:0011968HP:0011968Feeding difficulties1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM1147626274612803
HP:0011968HP:0011968Feeding difficulties1NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM187528086609653
HP:0011968HP:0011968Feeding difficulties1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132120117720161650
HP:0011968HP:0011968Feeding difficulties1NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM115724539611623
HP:0011968HP:0011968Feeding difficulties1NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14131729433300524
HP:0011968HP:0011968Feeding difficulties1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM1156816287608100
HP:0011968HP:0011968Feeding difficulties1NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0011968HP:0011968Feeding difficulties1NKX2-1 CL E G H708095713ORPHA11439611825600635
HP:0011968HP:0011968Feeding difficulties1NKX2-5 CL E G H148295713ORPHA11121712488600584
HP:0011968HP:0011968Feeding difficulties1NPHP1 CL E G H4867220497ORPHA1793287905607100
HP:0011968HP:0011968Feeding difficulties1NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1761467979600983
HP:0011968HP:0011968Feeding difficulties1NRXN1 CL E G H9378614325Pitt-Hopkins-like syndrome 2614325C3280479OMIM13458338008600565
HP:0011968HP:0011968Feeding difficulties1NSMCE3 CL E G H56160617241Lung disease, immunodeficiency, and chromosome breakage syndrome617241C4310653OMIM121147677608243
HP:0011968HP:0011968Feeding difficulties1ORC1 CL E G H49982554ORPHA112658487601902
HP:0011968HP:0011968Feeding difficulties1ORC4 CL E G H50002554ORPHA16728490603056
HP:0011968HP:0011968Feeding difficulties1ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16728490603056
HP:0011968HP:0011968Feeding difficulties1ORC6 CL E G H235942554ORPHA166717151607213
HP:0011968HP:0011968Feeding difficulties1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM166717151607213
HP:0011968HP:0011968Feeding difficulties1OTUD6B CL E G H51633505237ORPHA163724281612021
HP:0011968HP:0011968Feeding difficulties1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM163724281612021
HP:0011968HP:0011968Feeding difficulties1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM126830032607492
HP:0011968HP:0011968Feeding difficulties1PAX8 CL E G H784995713ORPHA151778622167415
HP:0011968HP:0011968Feeding difficulties1PDSS2 CL E G H57107614652Coenzyme Q10 deficiency, primary, 3614652C3553358OMIM169823041610564
HP:0011968HP:0011968Feeding difficulties1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1101338855601789
HP:0011968HP:0011968Feeding difficulties1PEX14 CL E G H5195614887Peroxisome biogenesis disorder 13A614887C3554004OMIM151278856601791
HP:0011968HP:0011968Feeding difficulties1PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12720622965608666
HP:0011968HP:0011968Feeding difficulties1PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM110818858603164
HP:0011968HP:0011968Feeding difficulties1PHGDH CL E G H2622779351ORPHA123808923606879
HP:0011968HP:0011968Feeding difficulties1PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1882239143603851
HP:0011968HP:0011968Feeding difficulties1PIEZO2 CL E G H638952461ORPHA13219426270613629
HP:0011968HP:0011968Feeding difficulties1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM12663046605938
HP:0011968HP:0011968Feeding difficulties1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122028213610662
HP:0011968HP:0011968Feeding difficulties1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM11792009039603604
HP:0011968HP:0011968Feeding difficulties1PLAA CL E G H9373521426ORPHA13739043603873
HP:0011968HP:0011968Feeding difficulties1PNPO CL E G H5516379096ORPHA13114030260603287
HP:0011968HP:0011968Feeding difficulties1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15416718801614787
HP:0011968HP:0011968Feeding difficulties1POLR3A CL E G H11128264090Neonatal pseudo-hydrocephalic progeroid syndrome264090C0406586OMIM19219430074614258
HP:0011968HP:0011968Feeding difficulties1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1810826267615247
HP:0011968HP:0011968Feeding difficulties1POU1F1 CL E G H5449226307ORPHA146649210173110
HP:0011968HP:0011968Feeding difficulties1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163609277605100
HP:0011968HP:0011968Feeding difficulties1PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11814230228609557
HP:0011968HP:0011968Feeding difficulties1PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM18269407605435
HP:0011968HP:0011968Feeding difficulties1PROP1 CL E G H5626226307ORPHA1421199455601538
HP:0011968HP:0011968Feeding difficulties1PSAP CL E G H5660611721Combined saposin deficiency611721C2673635OMIM1271469498176801
HP:0011968HP:0011968Feeding difficulties1PSMD12 CL E G H5718529962ORPHA110259557604450
HP:0011968HP:0011968Feeding difficulties1PSPH CL E G H572379350ORPHA19809577172480
HP:0011968HP:0011968Feeding difficulties1PTCH1 CL E G H572777301ORPHA152913809585601309
HP:0011968HP:0011968Feeding difficulties1PUF60 CL E G H22827615583Verheij syndrome615583C3810023OMIM1329117042604819
HP:0011968HP:0011968Feeding difficulties1PURA CL E G H5813616158Mental retardation, autosomal dominant 31616158C4015357OMIM1481429701600473
HP:0011968HP:0011968Feeding difficulties1RAP1A CL E G H59062322ORPHA12119855179520
HP:0011968HP:0011968Feeding difficulties1RAP1B CL E G H59082322ORPHA11129857179530
HP:0011968HP:0011968Feeding difficulties1RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM1601439863601592
HP:0011968HP:0011968Feeding difficulties1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM125979965605226
HP:0011968HP:0011968Feeding difficulties1RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143210659967164761
HP:0011968HP:0011968Feeding difficulties1RFT1 CL E G H91869244310ORPHA11311930220611908
HP:0011968HP:0011968Feeding difficulties1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11311930220611908
HP:0011968HP:0011968Feeding difficulties1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM1514913429300379
HP:0011968HP:0011968Feeding difficulties1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM1168021176614917
HP:0011968HP:0011968Feeding difficulties1RNASEH1 CL E G H246243329336ORPHA144718466604123
HP:0011968HP:0011968Feeding difficulties1RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM1218018518606034
HP:0011968HP:0011968Feeding difficulties1RPGRIP1L CL E G H23322220497ORPHA15125529168610937
HP:0011968HP:0011968Feeding difficulties1RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM11910418603685
HP:0011968HP:0011968Feeding difficulties1RRM2B CL E G H50484329336ORPHA14318117296604712
HP:0011968HP:0011968Feeding difficulties1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM14318117296604712
HP:0011968HP:0011968Feeding difficulties1RYR1 CL E G H6261424107ORPHA1688238210483180901
HP:0011968HP:0011968Feeding difficulties1RYR1 CL E G H626198905ORPHA1688238210483180901
HP:0011968HP:0011968Feeding difficulties1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688238210483180901
HP:0011968HP:0011968Feeding difficulties1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1510617697612804
HP:0011968HP:0011968Feeding difficulties1SATB2 CL E G H23314251019ORPHA110618421637608148
HP:0011968HP:0011968Feeding difficulties1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM11920410590182391
HP:0011968HP:0011968Feeding difficulties1SCN4A CL E G H6329684ORPHA112957910591603967
HP:0011968HP:0011968Feeding difficulties1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM112957910591603967
HP:0011968HP:0011968Feeding difficulties1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16324215999606210
HP:0011968HP:0011968Feeding difficulties1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM147710727608166
HP:0011968HP:0011968Feeding difficulties1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM15211221061614725
HP:0011968HP:0011968Feeding difficulties1SHANK3 CL E G H8535848652ORPHA119429214294606230
HP:0011968HP:0011968Feeding difficulties1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119429214294606230
HP:0011968HP:0011968Feeding difficulties1SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM1724411142605705
HP:0011968HP:0011968Feeding difficulties1SLC16A1 CL E G H6566616095Monocarboxylate transporter 1 deficiency616095C4015186OMIM1149510922600682
HP:0011968HP:0011968Feeding difficulties1SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM166610936600336
HP:0011968HP:0011968Feeding difficulties1SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM12438310979190315
HP:0011968HP:0011968Feeding difficulties1SLC25A19 CL E G H6038699742ORPHA187514409606521
HP:0011968HP:0011968Feeding difficulties1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM122820662608744
HP:0011968HP:0011968Feeding difficulties1SLC26A4 CL E G H517295713ORPHA15644518818605646
HP:0011968HP:0011968Feeding difficulties1SLC6A3 CL E G H6531238455ORPHA14619511049126455
HP:0011968HP:0011968Feeding difficulties1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM14619511049126455
HP:0011968HP:0011968Feeding difficulties1SMARCA4 CL E G H6597614609Mental retardation, autosomal dominant 16614609C3553249OMIM157172711100603254
HP:0011968HP:0011968Feeding difficulties1SMARCB1 CL E G H6598614608Mental retardation, autosomal dominant 15614608C3553248OMIM111934211103601607
HP:0011968HP:0011968Feeding difficulties1SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11315911109603111
HP:0011968HP:0011968Feeding difficulties1SMC1A CL E G H8243319182ORPHA110035011111300040
HP:0011968HP:0011968Feeding difficulties1SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM111730587608241
HP:0011968HP:0011968Feeding difficulties1SNRPB CL E G H66281393ORPHA173211153182282
HP:0011968HP:0011968Feeding difficulties1SNX10 CL E G H29887615085Osteopetrosis, autosomal recessive 8615085C3554478OMIM1133514974614780
HP:0011968HP:0011968Feeding difficulties1SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12810711183182465
HP:0011968HP:0011968Feeding difficulties1SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM12814718119613940
HP:0011968HP:0011968Feeding difficulties1SSR4 CL E G H6748370927ORPHA1723111326300090
HP:0011968HP:0011968Feeding difficulties1SSR4 CL E G H6748300934Congenital disorder of glycosylation type 1y300934C4012395OMIM1723111326300090
HP:0011968HP:0011968Feeding difficulties1ST3GAL5 CL E G H8869370938ORPHA179910872604402
HP:0011968HP:0011968Feeding difficulties1STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM144928423615521
HP:0011968HP:0011968Feeding difficulties1STAG1 CL E G H10274617635MENTAL RETARDATION, AUTOSOMAL DOMINANT 47617635C4539951OMIM1225311354604358
HP:0011968HP:0011968Feeding difficulties1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM157430172608626
HP:0011968HP:0011968Feeding difficulties1STT3A CL E G H3703370921ORPHA13806172601134
HP:0011968HP:0011968Feeding difficulties1STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM13806172601134
HP:0011968HP:0011968Feeding difficulties1STT3B CL E G H201595370924ORPHA154530611608605
HP:0011968HP:0011968Feeding difficulties1STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM154530611608605
HP:0011968HP:0011968Feeding difficulties1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12810011449611224
HP:0011968HP:0011968Feeding difficulties1SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM12724711503604297
HP:0011968HP:0011968Feeding difficulties1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM192211509185605
HP:0011968HP:0011968Feeding difficulties1TBC1D24 CL E G H57465352596ORPHA15643829203613577
HP:0011968HP:0011968Feeding difficulties1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM1238611581604649
HP:0011968HP:0011968Feeding difficulties1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114846411634602272
HP:0011968HP:0011968Feeding difficulties1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1128124519613847
HP:0011968HP:0011968Feeding difficulties1TH CL E G H7054101150ORPHA17722011782191290
HP:0011968HP:0011968Feeding difficulties1THRA CL E G H706797927ORPHA1142211796190120
HP:0011968HP:0011968Feeding difficulties1THRB CL E G H706897927ORPHA117122411799190160
HP:0011968HP:0011968Feeding difficulties1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1394711842608439
HP:0011968HP:0011968Feeding difficulties1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM152818188614123
HP:0011968HP:0011968Feeding difficulties1TMEM237 CL E G H65062220497ORPHA11112614432614423
HP:0011968HP:0011968Feeding difficulties1TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14016312011190990
HP:0011968HP:0011968Feeding difficulties1TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12814412012191030
HP:0011968HP:0011968Feeding difficulties1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11723225751614138
HP:0011968HP:0011968Feeding difficulties1TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM133724284614139
HP:0011968HP:0011968Feeding difficulties1TRHR CL E G H720199832ORPHA174112299188545
HP:0011968HP:0011968Feeding difficulties1TRMT10C CL E G H54931616974Combined oxidative phosphorylation deficiency 30616974C4310773OMIM121426022615423
HP:0011968HP:0011968Feeding difficulties1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM1512828422608753
HP:0011968HP:0011968Feeding difficulties1TSHB CL E G H725290674ORPHA1141812372188540
HP:0011968HP:0011968Feeding difficulties1TSHR CL E G H725390673ORPHA116111812373603372
HP:0011968HP:0011968Feeding difficulties1TSHR CL E G H725395713ORPHA116111812373603372
HP:0011968HP:0011968Feeding difficulties1TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM143117772609063
HP:0011968HP:0011968Feeding difficulties1UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM1183323230610552
HP:0011968HP:0011968Feeding difficulties1UBE3B CL E G H899102707ORPHA1252813478608047
HP:0011968HP:0011968Feeding difficulties1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM131912511600673
HP:0011968HP:0011968Feeding difficulties1UFC1 CL E G H51506618076NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH618076CN252685OMIM121526941610554
HP:0011968HP:0011968Feeding difficulties1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM1267326582612636
HP:0011968HP:0011968Feeding difficulties1UQCC3 CL E G H790955616111Mitochondrial complex III deficiency, nuclear type 9616111C4015253OMIM111934399616097
HP:0011968HP:0011968Feeding difficulties1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12820512632300072
HP:0011968HP:0011968Feeding difficulties1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1142512730604733
HP:0011968HP:0011968Feeding difficulties1WDR26 CL E G H80232617616SKRABAN-DEARDORFF SYNDROME617616C4539927OMIM1344621208617424
HP:0011968HP:0011968Feeding difficulties1ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM11716524931300897
HP:0011968HP:0011968Feeding difficulties1ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM143012933601897
HP:0011968HP:0011968Feeding difficulties1ZNHIT3 CL E G H93262836ORPHA119212309604500
HP:0011968HP:0011968Feeding difficulties1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM123629316615951
HP:0011968HP:0011968Feeding difficulties2ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM189768603214
HP:0011968HP:0011968Feeding difficulties2ACADL CL E G H3399900ORPHA124688609576
HP:0011968HP:0011968Feeding difficulties2ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217198129102610
HP:0011968HP:0011968Feeding difficulties2ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165174132102630
HP:0011968HP:0011968Feeding difficulties2ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148226144102560
HP:0011968HP:0011968Feeding difficulties2ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16811415766611386
HP:0011968HP:0011968Feeding difficulties2AHI1 CL E G H54806220493ORPHA19627221575608894
HP:0011968HP:0011968Feeding difficulties2ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1331929722138250
HP:0011968HP:0011968Feeding difficulties2ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16587179603178
HP:0011968HP:0011968Feeding difficulties2ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11410532456613666
HP:0011968HP:0011968Feeding difficulties2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11618519358607144
HP:0011968HP:0011968Feeding difficulties2ANKRD11 CL E G H291232332ORPHA113444921316611192
HP:0011968HP:0011968Feeding difficulties2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA1487621732608041
HP:0011968HP:0011968Feeding difficulties2AP1S2 CL E G H890585329ORPHA114191560300629
HP:0011968HP:0011968Feeding difficulties2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1426568607246
HP:0011968HP:0011968Feeding difficulties2ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1629738100790
HP:0011968HP:0011968Feeding difficulties2ASH1L CL E G H55870617796MENTAL RETARDATION, AUTOSOMAL DOMINANT 52617796C4540478OMIM1193719088607999
HP:0011968HP:0011968Feeding difficulties2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12752753108370
HP:0011968HP:0011968Feeding difficulties2ASXL1 CL E G H17102397297ORPHA14119418318612990
HP:0011968HP:0011968Feeding difficulties2ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119418318612990
HP:0011968HP:0011968Feeding difficulties2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM15012629357615115
HP:0011968HP:0011968Feeding difficulties2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11714525567612316
HP:0011968HP:0011968Feeding difficulties2ATP6V0A2 CL E G H23545357074ORPHA15622618481611716
HP:0011968HP:0011968Feeding difficulties2ATP6V1A CL E G H523357074ORPHA1933851607027
HP:0011968HP:0011968Feeding difficulties2ATP6V1E1 CL E G H529357074ORPHA1261857108746
HP:0011968HP:0011968Feeding difficulties2ATXN7 CL E G H631494147ORPHA162410560607640
HP:0011968HP:0011968Feeding difficulties2AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM16213614262607270
HP:0011968HP:0011968Feeding difficulties2BPTF CL E G H2186529962ORPHA114403581601819
HP:0011968HP:0011968Feeding difficulties2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11829921701614506
HP:0011968HP:0011968Feeding difficulties2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM1186614255602410
HP:0011968HP:0011968Feeding difficulties2CA12 CL E G H771143860Hyperchlorhidrosis, isolated143860C1840437OMIM14151371603263
HP:0011968HP:0011968Feeding difficulties2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM111431461607707
HP:0011968HP:0011968Feeding difficulties2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM1423925695612800
HP:0011968HP:0011968Feeding difficulties2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM115599688603198
HP:0011968HP:0011968Feeding difficulties2CDC45 CL E G H83182554ORPHA1193541739603465
HP:0011968HP:0011968Feeding difficulties2CDC6 CL E G H9902554ORPHA14411744602627
HP:0011968HP:0011968Feeding difficulties2CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14411744602627
HP:0011968HP:0011968Feeding difficulties2CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM122571733603309
HP:0011968HP:0011968Feeding difficulties2CDT1 CL E G H816202554ORPHA11212424576605525
HP:0011968HP:0011968Feeding difficulties2CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11212424576605525
HP:0011968HP:0011968Feeding difficulties2CEP120 CL E G H153241220493ORPHA196226690613446
HP:0011968HP:0011968Feeding difficulties2CEP41 CL E G H95681220493ORPHA11113212370610523
HP:0011968HP:0011968Feeding difficulties2CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11712320311616327
HP:0011968HP:0011968Feeding difficulties2CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM188490520626608892
HP:0011968HP:0011968Feeding difficulties2CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM1361721955100690
HP:0011968HP:0011968Feeding difficulties2CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1111291961100710
HP:0011968HP:0011968Feeding difficulties2CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties2CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM1261731965100720
HP:0011968HP:0011968Feeding difficulties2CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties2CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11382631966100725
HP:0011968HP:0011968Feeding difficulties2CLCF1 CL E G H235291545Corsello Opitz syndromeORPHA141717412607672
HP:0011968HP:0011968Feeding difficulties2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM12513530664616254
HP:0011968HP:0011968Feeding difficulties2COG4 CL E G H25839263501ORPHA1613518620606976
HP:0011968HP:0011968Feeding difficulties2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1512218622606978
HP:0011968HP:0011968Feeding difficulties2COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM13232190120350
HP:0011968HP:0011968Feeding difficulties2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15362244601683
HP:0011968HP:0011968Feeding difficulties2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM158125302612837
HP:0011968HP:0011968Feeding difficulties2CRLF1 CL E G H92441545Corsello Opitz syndromeORPHA137372364604237
HP:0011968HP:0011968Feeding difficulties2CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM120812457115440
HP:0011968HP:0011968Feeding difficulties2CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1187113723604167
HP:0011968HP:0011968Feeding difficulties2CWC27 CL E G H10283250410Retinitis pigmentosa with or without skeletal anomalies250410C1855188OMIM171610664617170
HP:0011968HP:0011968Feeding difficulties2CYP11A1 CL E G H1583168558ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties2CYP11A1 CL E G H1583289548ORPHA130642590118485
HP:0011968HP:0011968Feeding difficulties2DCHS1 CL E G H8642601390601390601390OMIM1246513681603057
HP:0011968HP:0011968Feeding difficulties2DCX CL E G H16412148ORPHA11423142714300121
HP:0011968HP:0011968Feeding difficulties2DHCR24 CL E G H171835107ORPHA110882859606418
HP:0011968HP:0011968Feeding difficulties2DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM19692861126060
HP:0011968HP:0011968Feeding difficulties2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1231412898238331
HP:0011968HP:0011968Feeding difficulties2DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1231412898238331
HP:0011968HP:0011968Feeding difficulties2DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM1202112973603850
HP:0011968HP:0011968Feeding difficulties2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19139964601671
HP:0011968HP:0011968Feeding difficulties2DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12743006603564
HP:0011968HP:0011968Feeding difficulties2DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM194141090113810
HP:0011968HP:0011968Feeding difficulties2EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM121913178131242
HP:0011968HP:0011968Feeding difficulties2EFTUD2 CL E G H934379113ORPHA11017730858603892
HP:0011968HP:0011968Feeding difficulties2EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM122518683608546
HP:0011968HP:0011968Feeding difficulties2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0011968HP:0011968Feeding difficulties2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM11910917944606489
HP:0011968HP:0011968Feeding difficulties2EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM134317035606019
HP:0011968HP:0011968Feeding difficulties2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0011968HP:0011968Feeding difficulties2FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12419021062611592
HP:0011968HP:0011968Feeding difficulties2FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13723223109612411
HP:0011968HP:0011968Feeding difficulties2FBN1 CL E G H2200284979ORPHA1