Human Phenotype Ontology 
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Tube feeding (HP:0033454)help
Term ID: 33454
Name: Tube feeding
Synonym:
Definition: Feeding problem necessitating food and nutrient delivery via a tube.
Comments:
Reference: HP:0033454
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033454HP:0033454Tube feeding0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0033454HP:0033454Tube feeding0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0033454HP:0033454Tube feeding0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemia68
HP:0033454HP:0033454Tube feeding0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0033454HP:0033454Tube feeding0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0033454HP:0033454Tube feeding0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0033454HP:0033454Tube feeding0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0033454HP:0033454Tube feeding0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0033454HP:0033454Tube feeding0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0033454HP:0033454Tube feeding0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0033454HP:0033454Tube feeding0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0033454HP:0033454Tube feeding0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0033454HP:0033454Tube feeding0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0033454HP:0033454Tube feeding0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0033454HP:0033454Tube feeding0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0033454HP:0033454Tube feeding0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0033454HP:0033454Tube feeding0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0033454HP:0033454Tube feeding0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0033454HP:0033454Tube feeding0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0033454HP:0033454Tube feeding0CDC42BPB CL E G H95781738OMIM:619841
HP:0033454HP:0033454Tube feeding0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0033454HP:0033454Tube feeding0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0033454HP:0033454Tube feeding0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0033454HP:0033454Tube feeding0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0033454HP:0033454Tube feeding0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0033454HP:0033454Tube feeding0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0033454HP:0033454Tube feeding0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0033454HP:0033454Tube feeding0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0033454HP:0033454Tube feeding0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0033454HP:0033454Tube feeding0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0033454HP:0033454Tube feeding0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0033454HP:0033454Tube feeding0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0033454HP:0033454Tube feeding0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0033454HP:0033454Tube feeding0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0033454HP:0033454Tube feeding0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0033454HP:0033454Tube feeding0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0033454HP:0033454Tube feeding0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0033454HP:0033454Tube feeding0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0033454HP:0033454Tube feeding0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0033454HP:0033454Tube feeding0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0033454HP:0033454Tube feeding0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0033454HP:0033454Tube feeding0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0033454HP:0033454Tube feeding0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0033454HP:0033454Tube feeding0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0033454HP:0033454Tube feeding0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0033454HP:0033454Tube feeding0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0033454HP:0033454Tube feeding0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0033454HP:0033454Tube feeding0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0033454HP:0033454Tube feeding0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0033454HP:0033454Tube feeding0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0033454HP:0033454Tube feeding0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0033454HP:0033454Tube feeding0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0033454HP:0033454Tube feeding0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0033454HP:0033454Tube feeding0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0033454HP:0033454Tube feeding0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0033454HP:0033454Tube feeding0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0033454HP:0033454Tube feeding0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0033454HP:0033454Tube feeding0DTYMK CL E G H18413061OMIM:619847
HP:0033454HP:0033454Tube feeding0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0033454HP:0033454Tube feeding0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0033454HP:0033454Tube feeding0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0033454HP:0033454Tube feeding0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0033454HP:0033454Tube feeding0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0033454HP:0033454Tube feeding0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0033454HP:0033454Tube feeding0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0033454HP:0033454Tube feeding0FBP2 CL E G H87893607OMIM:619864
HP:0033454HP:0033454Tube feeding0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0033454HP:0033454Tube feeding0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0033454HP:0033454Tube feeding0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0033454HP:0033454Tube feeding0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0033454HP:0033454Tube feeding0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0033454HP:0033454Tube feeding0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0033454HP:0033454Tube feeding0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0033454HP:0033454Tube feeding0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0033454HP:0033454Tube feeding0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0033454HP:0033454Tube feeding0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0033454HP:0033454Tube feeding0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0033454HP:0033454Tube feeding0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0033454HP:0033454Tube feeding0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0033454HP:0033454Tube feeding0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0033454HP:0033454Tube feeding0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0033454HP:0033454Tube feeding0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0033454HP:0033454Tube feeding0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0033454HP:0033454Tube feeding0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0033454HP:0033454Tube feeding0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0033454HP:0033454Tube feeding0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0033454HP:0033454Tube feeding0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0033454HP:0033454Tube feeding0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0033454HP:0033454Tube feeding0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0033454HP:0033454Tube feeding0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0033454HP:0033454Tube feeding0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0033454HP:0033454Tube feeding0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0033454HP:0033454Tube feeding0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0033454HP:0033454Tube feeding0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0033454HP:0033454Tube feeding0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0033454HP:0033454Tube feeding0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0033454HP:0033454Tube feeding0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0033454HP:0033454Tube feeding0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0033454HP:0033454Tube feeding0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0033454HP:0033454Tube feeding0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0033454HP:0033454Tube feeding0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0033454HP:0033454Tube feeding0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0033454HP:0033454Tube feeding0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0033454HP:0033454Tube feeding0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0033454HP:0033454Tube feeding0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0033454HP:0033454Tube feeding0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0033454HP:0033454Tube feeding0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0033454HP:0033454Tube feeding0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0033454HP:0033454Tube feeding0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0033454HP:0033454Tube feeding0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0033454HP:0033454Tube feeding0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel type4
HP:0033454HP:0033454Tube feeding0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 465
HP:0033454HP:0033454Tube feeding0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0033454HP:0033454Tube feeding0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0033454HP:0033454Tube feeding0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0033454HP:0033454Tube feeding0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0033454HP:0033454Tube feeding0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0033454HP:0033454Tube feeding0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0033454HP:0033454Tube feeding0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0033454HP:0033454Tube feeding0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0033454HP:0033454Tube feeding0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0033454HP:0033454Tube feeding0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0033454HP:0033454Tube feeding0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0033454HP:0033454Tube feeding0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0033454HP:0033454Tube feeding0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0033454HP:0033454Tube feeding0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0033454HP:0033454Tube feeding0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0033454HP:0033454Tube feeding0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0033454HP:0033454Tube feeding0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0033454HP:0033454Tube feeding0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0033454HP:0033454Tube feeding0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0033454HP:0033454Tube feeding0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0033454HP:0033454Tube feeding0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0033454HP:0033454Tube feeding0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0033454HP:0033454Tube feeding0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0033454HP:0033454Tube feeding0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0033454HP:0033454Tube feeding0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0033454HP:0033454Tube feeding0NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0033454HP:0033454Tube feeding0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0033454HP:0033454Tube feeding0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0033454HP:0033454Tube feeding0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0033454HP:0033454Tube feeding0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0033454HP:0033454Tube feeding0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0033454HP:0033454Tube feeding0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0033454HP:0033454Tube feeding0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0033454HP:0033454Tube feeding0NRCAM CL E G H48977994OMIM:6198332
HP:0033454HP:0033454Tube feeding0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0033454HP:0033454Tube feeding0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0033454HP:0033454Tube feeding0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0033454HP:0033454Tube feeding0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0033454HP:0033454Tube feeding0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0033454HP:0033454Tube feeding0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0033454HP:0033454Tube feeding0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0033454HP:0033454Tube feeding0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0033454HP:0033454Tube feeding0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0033454HP:0033454Tube feeding0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0033454HP:0033454Tube feeding0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0033454HP:0033454Tube feeding0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0033454HP:0033454Tube feeding0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0033454HP:0033454Tube feeding0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0033454HP:0033454Tube feeding0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0033454HP:0033454Tube feeding0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0033454HP:0033454Tube feeding0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal form60
HP:0033454HP:0033454Tube feeding0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0033454HP:0033454Tube feeding0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0033454HP:0033454Tube feeding0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0033454HP:0033454Tube feeding0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0033454HP:0033454Tube feeding0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0033454HP:0033454Tube feeding0PSMC1 CL E G H57009547OMIM:6200711
HP:0033454HP:0033454Tube feeding0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0033454HP:0033454Tube feeding0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0033454HP:0033454Tube feeding0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0033454HP:0033454Tube feeding0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0033454HP:0033454Tube feeding0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0033454HP:0033454Tube feeding0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0033454HP:0033454Tube feeding0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0033454HP:0033454Tube feeding0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0033454HP:0033454Tube feeding0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0033454HP:0033454Tube feeding0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0033454HP:0033454Tube feeding0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0033454HP:0033454Tube feeding0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0033454HP:0033454Tube feeding0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0033454HP:0033454Tube feeding0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0033454HP:0033454Tube feeding0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0033454HP:0033454Tube feeding0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0033454HP:0033454Tube feeding0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0033454HP:0033454Tube feeding0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0033454HP:0033454Tube feeding0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0033454HP:0033454Tube feeding0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0033454HP:0033454Tube feeding0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0033454HP:0033454Tube feeding0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0033454HP:0033454Tube feeding0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0033454HP:0033454Tube feeding0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0033454HP:0033454Tube feeding0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0033454HP:0033454Tube feeding0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0033454HP:0033454Tube feeding0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0033454HP:0033454Tube feeding0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0033454HP:0033454Tube feeding0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0033454HP:0033454Tube feeding0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0033454HP:0033454Tube feeding0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0033454HP:0033454Tube feeding0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0033454HP:0033454Tube feeding0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0033454HP:0033454Tube feeding0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0033454HP:0033454Tube feeding0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0033454HP:0033454Tube feeding0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0033454HP:0033454Tube feeding0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0033454HP:0033454Tube feeding0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0033454HP:0033454Tube feeding0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0033454HP:0033454Tube feeding0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0033454HP:0033454Tube feeding0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0033454HP:0033454Tube feeding0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0033454HP:0033454Tube feeding0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0033454HP:0033454Tube feeding0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0033454HP:0033454Tube feeding0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0033454HP:0033454Tube feeding0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0033454HP:0033454Tube feeding0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0033454HP:0033454Tube feeding0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0033454HP:0033454Tube feeding0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0033454HP:0033454Tube feeding0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0033454HP:0033454Tube feeding0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0033454HP:0033454Tube feeding0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0033454HP:0033454Tube feeding0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0033454HP:0033454Tube feeding0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0033454HP:0033454Tube feeding0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0033454HP:0033454Tube feeding0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0033454HP:0033454Tube feeding0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0033454HP:0033454Tube feeding0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0033454HP:0033454Tube feeding0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0033454HP:0033454Tube feeding0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0033454HP:0033454Tube feeding0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0033454HP:0033454Tube feeding0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0033454HP:0033454Tube feeding0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0033454HP:0033454Tube feeding0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0033454HP:0033454Tube feeding0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0033454HP:0033454Tube feeding0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0033454HP:0033454Tube feeding0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0033454HP:0033454Tube feeding0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0033454HP:0033454Tube feeding0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0033454HP:0033454Tube feeding0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0033454HP:0033454Tube feeding0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0033454HP:0033454Tube feeding0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0033454HP:0033454Tube feeding0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0033454HP:0033454Tube feeding0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0033454HP:0033454Tube feeding0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0033454HP:0033454Tube feeding0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0033454HP:0033454Tube feeding0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0033454HP:0033454Tube feeding0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0033454HP:0033454Tube feeding0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0033454HP:0033454Tube feeding0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0033454HP:0033454Tube feeding0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0033454HP:0033454Tube feeding0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0033454HP:0033454Tube feeding0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0033454HP:0033454Tube feeding0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0033454HP:0033454Tube feeding0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0033454HP:0033454Tube feeding0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0033454HP:0033454Tube feeding0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0033454HP:0033454Tube feeding0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0033454HP:0040288Nasogastric tube feeding1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0033454HP:0040288Nasogastric tube feeding1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0033454HP:0040288Nasogastric tube feeding1ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0033454HP:0011470Nasogastric tube feeding in infancy1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040282 - Frequent6
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0033454HP:0040288Nasogastric tube feeding1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0033454HP:0040288Nasogastric tube feeding1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0033454HP:0040288Nasogastric tube feeding1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040283 - Occasional48
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040284 - Very rare48
HP:0033454HP:0040288Nasogastric tube feeding1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0033454HP:0030884Gastrojejunal tube feeding in infancy1B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0033454HP:0011470Nasogastric tube feeding in infancy1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0033454HP:0040288Nasogastric tube feeding1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0033454HP:0040288Nasogastric tube feeding1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0033454HP:0040288Nasogastric tube feeding1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0033454HP:0040288Nasogastric tube feeding1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0033454HP:0011470Nasogastric tube feeding in infancy1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0033454HP:0011470Nasogastric tube feeding in infancy1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0033454HP:0040288Nasogastric tube feeding1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0033454HP:0040288Nasogastric tube feeding1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0033454HP:0011470Nasogastric tube feeding in infancy1COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0033454HP:0011470Nasogastric tube feeding in infancy1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0033454HP:0011470Nasogastric tube feeding in infancy1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0033454HP:0040288Nasogastric tube feeding1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0033454HP:0011470Nasogastric tube feeding in infancy1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0033454HP:0011470Nasogastric tube feeding in infancy1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0033454HP:0030884Gastrojejunal tube feeding in infancy1EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0033454HP:0011470Nasogastric tube feeding in infancy1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0033454HP:0040288Nasogastric tube feeding1EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0033454HP:0040288Nasogastric tube feeding1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0033454HP:0011470Nasogastric tube feeding in infancy1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0033454HP:0011470Nasogastric tube feeding in infancy1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0033454HP:0040288Nasogastric tube feeding1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0033454HP:0011470Nasogastric tube feeding in infancy1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0033454HP:0040288Nasogastric tube feeding1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0033454HP:0011470Nasogastric tube feeding in infancy1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0033454HP:0011470Nasogastric tube feeding in infancy1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0033454HP:0040288Nasogastric tube feeding1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0033454HP:0011470Nasogastric tube feeding in infancy1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0033454HP:0011470Nasogastric tube feeding in infancy1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0033454HP:0011470Nasogastric tube feeding in infancy1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040282 - Frequent3
HP:0033454HP:0011470Nasogastric tube feeding in infancy1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0033454HP:0011470Nasogastric tube feeding in infancy1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0033454HP:0011470Nasogastric tube feeding in infancy1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0033454HP:0040288Nasogastric tube feeding1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0033454HP:0040288Nasogastric tube feeding1KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0033454HP:0040288Nasogastric tube feeding1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0033454HP:0011470Nasogastric tube feeding in infancy1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0033454HP:0040288Nasogastric tube feeding1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0033454HP:0040288Nasogastric tube feeding1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0033454HP:0040288Nasogastric tube feeding1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0033454HP:0040288Nasogastric tube feeding1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0033454HP:0011470Nasogastric tube feeding in infancy1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0033454HP:0040288Nasogastric tube feeding1NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040283 - Occasional1
HP:0033454HP:0011470Nasogastric tube feeding in infancy1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0033454HP:0040288Nasogastric tube feeding1NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional45
HP:0033454HP:0040288Nasogastric tube feeding1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1NRCAM CL E G H48977994OMIM:6198332
HP:0033454HP:0040288Nasogastric tube feeding1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0033454HP:0011470Nasogastric tube feeding in infancy1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0033454HP:0011470Nasogastric tube feeding in infancy1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0033454HP:0040288Nasogastric tube feeding1PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent9
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0033454HP:0040288Nasogastric tube feeding1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040283 - Occasional60
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0033454HP:0011470Nasogastric tube feeding in infancy1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0033454HP:0040288Nasogastric tube feeding1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0033454HP:0040288Nasogastric tube feeding1PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional665
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0033454HP:0011470Nasogastric tube feeding in infancy1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0033454HP:0040288Nasogastric tube feeding1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0033454HP:0011470Nasogastric tube feeding in infancy1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0033454HP:0011470Nasogastric tube feeding in infancy1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional67
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0033454HP:0040288Nasogastric tube feeding1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0033454HP:0040288Nasogastric tube feeding1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0033454HP:0011470Nasogastric tube feeding in infancy1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0033454HP:0040288Nasogastric tube feeding1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional99
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional1
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040283 - Occasional18
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0033454HP:0011470Nasogastric tube feeding in infancy1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0033454HP:0030884Gastrojejunal tube feeding in infancy1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0033454HP:0011470Nasogastric tube feeding in infancy1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0033454HP:0040288Nasogastric tube feeding1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0033454HP:0040288Nasogastric tube feeding1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0033454HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional34
HP:0033454HP:0040288Nasogastric tube feeding1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (200) :AASS ABCD1 ACSF3 ACTA1 ADNP AFF4 ALG12 ALG2 ALS2 ANAPC1 ASPA ASXL3 B3GALT6 BLM BRAF BSND C2CD3 CARS2 CDC42BPB CDON CLCN6 CLCNKA CLCNKB CLN8 CLPB CLTCL1 COG5 COL2A1 COL4A5 COL4A6 COL7A1 COQ2 COX8A CREBBP CTCF DALRD3 DCHS1 DEGS1 DISP1 DLK1 DLL1 DNM1L DPM1 DPM2 DTYMK DYRK1A EDEM3 EN1 EP300 EPM2A EPRS1 FAT4 FBP2 FDFT1 FGF8 FGFR1 FOXH1 FOXP3 FUS GALC GAS1 GFM2 GLI2 GNB2 GNPTAB GNS GPT2 GRIN1 GRM7 HACD1 HECW2 HERC2 HNRNPK IDH1 IPW ITCH ITGA7 KANSL1 KCNK9 KCNQ5 KIAA0753 KLHL40 KNSTRN KRT14 KRT5 LAMB2 LONP1 LRPPRC MAGEL2 MAP3K20 MEG3 MFF MGAT2 MKRN3 MKRN3-AS1 MOGS MPDU1 MTM1 MTRFR MYL1 MYL2 MYO1H NAA10 NACC1 NALCN NHLRC1 NODAL NONO NPAP1 NRCAM PACS1 PDE10A PDHA1 PDSS2 PGAP1 PGAP2 PGAP3 PIGL PIGO PIGT PIGU PIGV PIGW PIGY PIK3CD PLCH1 PLP1 PNPT1 PPP2R1A PRPS1 PSAP PSAT1 PSMC1 PTCD3 PTCH1 PTPN23 PUF60 PWAR1 PWRN1 RALGAPA1 RAPSN RECQL4 RNF13 RTL1 SATB2 SCN1A SCN3A SELENON SEPSECS SETBP1 SHH SIGMAR1 SIM1 SIX3 SLC1A4 SLC35A2 SLC5A6 SMC1A SNORD115-1 SNORD116-1 SNRPN SON SPATA5 SPG11 SPOP SPTBN4 SPTLC1 SRCAP STAG2 STIL SYNE1 TBCK TDGF1 TFG TGIF1 TOM1 TOR1A TP63 TPM2 TPM3 TRAPPC12 TRIO TRIP4 TRMU TRNE TSEN15 TSEN2 TSEN34 TSEN54 TXN2 UBTF UGDH UNC80 VPS50 WAC WDR26 YARS1 YY1 ZIC2 ZNF699

Diseases (147) :ORPHA:2203 ORPHA:139396 ORPHA:289504 ORPHA:2020 ORPHA:404448 ORPHA:444077 ORPHA:79324 OMIM:607906 ORPHA:300605 ORPHA:221008 ORPHA:314911 OMIM:615485 OMIM:609465 ORPHA:125 OMIM:115150 OMIM:613706 ORPHA:89938 ORPHA:434179 ORPHA:477774 OMIM:619841 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:619173 ORPHA:1947 OMIM:616271 ORPHA:453510 ORPHA:263487 ORPHA:93316 ORPHA:1018 ORPHA:89842 ORPHA:255249 OMIM:619059 ORPHA:353277 ORPHA:363611 OMIM:618910 ORPHA:314679 OMIM:618404 ORPHA:96334 ORPHA:330050 ORPHA:79322 ORPHA:329178 OMIM:619847 ORPHA:268261 OMIM:619493 OMIM:619218 ORPHA:353284 ORPHA:501 OMIM:617951 OMIM:619864 OMIM:618156 ORPHA:37042 ORPHA:206436 ORPHA:565624 OMIM:619503 ORPHA:576 OMIM:252940 ORPHA:477673 ORPHA:208447 OMIM:618922 OMIM:617268 OMIM:176270 ORPHA:352665 ORPHA:453504 ORPHA:99646 OMIM:613385 ORPHA:228426 ORPHA:363958 ORPHA:363965 ORPHA:166108 OMIM:617601 OMIM:619479 OMIM:615348 ORPHA:221139 ORPHA:79396 OMIM:609049 ORPHA:79243 ORPHA:70472 ORPHA:398069 ORPHA:485421 ORPHA:79329 ORPHA:79330 ORPHA:79323 OMIM:310400 ORPHA:254930 OMIM:618414 OMIM:619482 OMIM:300855 ORPHA:500545 ORPHA:371364 ORPHA:466791 OMIM:619833 ORPHA:329224 ORPHA:494526 OMIM:615802 ORPHA:247262 ORPHA:369837 OMIM:618590 ORPHA:280210 ORPHA:319514 ORPHA:457284 ORPHA:423479 ORPHA:284417 OMIM:620071 OMIM:619057 OMIM:618890 ORPHA:508488 OMIM:618797 OMIM:616326 ORPHA:221016 ORPHA:544503 ORPHA:251028 OMIM:619317 OMIM:617938 ORPHA:2524 ORPHA:798 ORPHA:398079 ORPHA:447997 ORPHA:356961 OMIM:618973 ORPHA:177907 ORPHA:500150 ORPHA:457351 OMIM:618828 OMIM:617519 ORPHA:2044 ORPHA:319332 OMIM:616900 ORPHA:90117 OMIM:619510 OMIM:618947 OMIM:106260 ORPHA:500144 ORPHA:476126 ORPHA:486815 ORPHA:254864 ORPHA:478029 ORPHA:500180 OMIM:618792 OMIM:619685 ORPHA:466950 ORPHA:513456 OMIM:619418 ORPHA:506358 OMIM:619488
 

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