Human Phenotype Ontology 
Grandparent Node:
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Abdominal symptom (HP:0011458)help
Parent Node:
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Feeding difficulties (HP:0011968)help
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Feeding difficulties in infancy (HP:0008872)help
Term ID: 8872
Name: Feeding difficulties in infancy
Synonym:
Definition: Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Comments:
Reference: HP:0008872
Genes and Diseases:
 
       Child Nodes:
........expandPoor suck (HP:0002033) help
........expandNasal regurgitation (HP:0011469) help
........expandNasogastric tube feeding in infancy (HP:0011470) help
........expandGastrostomy tube feeding in infancy (HP:0011471) help
........expandGastrojejunal tube feeding in infancy (HP:0030884) help

 Sister Nodes: 
..expandDelayed self-feeding during toddler years (HP:0012381) help
..expandNasogastric tube feeding (HP:0040288) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008872HP:0008872Feeding difficulties in infancy0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0008872HP:0008872Feeding difficulties in infancy0ACADS CL E G H3590OMIM:201470Acyl-Coa dehydrogenase, short-chain, deficiency of.90
HP:0008872HP:0008872Feeding difficulties in infancy0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0008872HP:0008872Feeding difficulties in infancy0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0008872HP:0008872Feeding difficulties in infancy0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0008872HP:0008872Feeding difficulties in infancy0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0008872HP:0008872Feeding difficulties in infancy0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0008872HP:0008872Feeding difficulties in infancy0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0008872HP:0008872Feeding difficulties in infancy0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0008872HP:0008872Feeding difficulties in infancy0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040282 - Frequent175
HP:0008872HP:0008872Feeding difficulties in infancy0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathyHP:0040283 - Occasional60
HP:0008872HP:0008872Feeding difficulties in infancy0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0008872HP:0008872Feeding difficulties in infancy0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0008872HP:0008872Feeding difficulties in infancy0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0008872HP:0008872Feeding difficulties in infancy0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0008872HP:0008872Feeding difficulties in infancy0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0008872HP:0008872Feeding difficulties in infancy0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008872HP:0008872Feeding difficulties in infancy0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0008872HP:0008872Feeding difficulties in infancy0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040282 - Frequent62
HP:0008872HP:0008872Feeding difficulties in infancy0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional253
HP:0008872HP:0008872Feeding difficulties in infancy0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0008872HP:0008872Feeding difficulties in infancy0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0008872HP:0008872Feeding difficulties in infancy0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0008872HP:0008872Feeding difficulties in infancy0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0008872HP:0008872Feeding difficulties in infancy0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0008872HP:0008872Feeding difficulties in infancy0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0008872HP:0008872Feeding difficulties in infancy0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040281 - Very frequent49
HP:0008872HP:0008872Feeding difficulties in infancy0ATAD3A CL E G H5521025567OMIM:618810PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL5
HP:0008872HP:0008872Feeding difficulties in infancy0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0008872HP:0008872Feeding difficulties in infancy0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0008872HP:0008872Feeding difficulties in infancy0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0008872HP:0008872Feeding difficulties in infancy0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0008872HP:0008872Feeding difficulties in infancy0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0008872HP:0008872Feeding difficulties in infancy0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008872HP:0008872Feeding difficulties in infancy0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0008872HP:0008872Feeding difficulties in infancy0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0008872HP:0008872Feeding difficulties in infancy0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0008872HP:0008872Feeding difficulties in infancy0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked.67
HP:0008872HP:0008872Feeding difficulties in infancy0B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0008872HP:0008872Feeding difficulties in infancy0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0008872HP:0008872Feeding difficulties in infancy0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008872HP:0008872Feeding difficulties in infancy0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040282 - Frequent28
HP:0008872HP:0008872Feeding difficulties in infancy0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040282 - Frequent34
HP:0008872HP:0008872Feeding difficulties in infancy0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0008872HP:0008872Feeding difficulties in infancy0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0008872HP:0008872Feeding difficulties in infancy0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0008872HP:0008872Feeding difficulties in infancy0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0008872HP:0008872Feeding difficulties in infancy0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0008872HP:0008872Feeding difficulties in infancy0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0008872HP:0008872Feeding difficulties in infancy0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0008872HP:0008872Feeding difficulties in infancy0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0008872HP:0008872Feeding difficulties in infancy0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0008872HP:0008872Feeding difficulties in infancy0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0008872HP:0008872Feeding difficulties in infancy0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7.276
HP:0008872HP:0008872Feeding difficulties in infancy0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0008872HP:0008872Feeding difficulties in infancy0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0008872HP:0008872Feeding difficulties in infancy0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0008872HP:0008872Feeding difficulties in infancy0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0008872HP:0008872Feeding difficulties in infancy0CASK CL E G H85731497OMIM:300422FG SYNDROME 4; FGS4118
HP:0008872HP:0008872Feeding difficulties in infancy0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0008872HP:0008872Feeding difficulties in infancy0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0008872HP:0008872Feeding difficulties in infancy0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0008872HP:0008872Feeding difficulties in infancy0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0008872HP:0008872Feeding difficulties in infancy0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0008872HP:0008872Feeding difficulties in infancy0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0008872HP:0008872Feeding difficulties in infancy0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0008872HP:0008872Feeding difficulties in infancy0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent114
HP:0008872HP:0008872Feeding difficulties in infancy0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0008872HP:0008872Feeding difficulties in infancy0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0008872HP:0008872Feeding difficulties in infancy0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0008872HP:0008872Feeding difficulties in infancy0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0008872HP:0008872Feeding difficulties in infancy0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0008872HP:0008872Feeding difficulties in infancy0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040282 - Frequent5
HP:0008872HP:0008872Feeding difficulties in infancy0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0008872HP:0008872Feeding difficulties in infancy0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040282 - Frequent7
HP:0008872HP:0008872Feeding difficulties in infancy0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040282 - Frequent90
HP:0008872HP:0008872Feeding difficulties in infancy0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0008872HP:0008872Feeding difficulties in infancy0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0008872HP:0008872Feeding difficulties in infancy0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0008872HP:0008872Feeding difficulties in infancy0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0008872HP:0008872Feeding difficulties in infancy0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0008872HP:0008872Feeding difficulties in infancy0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0008872HP:0008872Feeding difficulties in infancy0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0008872HP:0008872Feeding difficulties in infancy0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040282 - Frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0008872HP:0008872Feeding difficulties in infancy0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0008872HP:0008872Feeding difficulties in infancy0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional3
HP:0008872HP:0008872Feeding difficulties in infancy0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0008872HP:0008872Feeding difficulties in infancy0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0008872HP:0008872Feeding difficulties in infancy0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0008872HP:0008872Feeding difficulties in infancy0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0008872HP:0008872Feeding difficulties in infancy0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north40
HP:0008872HP:0008872Feeding difficulties in infancy0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0008872HP:0008872Feeding difficulties in infancy0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0008872HP:0008872Feeding difficulties in infancy0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0008872HP:0008872Feeding difficulties in infancy0COL1A1 CL E G H12772197ORPHA:1310Caffey diseaseHP:0040283 - Occasional373
HP:0008872HP:0008872Feeding difficulties in infancy0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0008872HP:0008872Feeding difficulties in infancy0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0008872HP:0008872Feeding difficulties in infancy0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0008872HP:0008872Feeding difficulties in infancy0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0008872HP:0008872Feeding difficulties in infancy0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form263
HP:0008872HP:0008872Feeding difficulties in infancy0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 590
HP:0008872HP:0008872Feeding difficulties in infancy0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0008872HP:0008872Feeding difficulties in infancy0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0008872HP:0008872Feeding difficulties in infancy0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0008872HP:0008872Feeding difficulties in infancy0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0008872HP:0008872Feeding difficulties in infancy0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0008872HP:0008872Feeding difficulties in infancy0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0008872HP:0008872Feeding difficulties in infancy0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0008872HP:0008872Feeding difficulties in infancy0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0008872HP:0008872Feeding difficulties in infancy0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0008872HP:0008872Feeding difficulties in infancy0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0008872HP:0008872Feeding difficulties in infancy0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0008872HP:0008872Feeding difficulties in infancy0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040282 - Frequent57
HP:0008872HP:0008872Feeding difficulties in infancy0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorder20
HP:0008872HP:0008872Feeding difficulties in infancy0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0008872HP:0008872Feeding difficulties in infancy0DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0008872HP:0008872Feeding difficulties in infancy0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0008872HP:0008872Feeding difficulties in infancy0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent27
HP:0008872HP:0008872Feeding difficulties in infancy0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0008872HP:0008872Feeding difficulties in infancy0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0008872HP:0008872Feeding difficulties in infancy0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0008872HP:0008872Feeding difficulties in infancy0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0008872HP:0008872Feeding difficulties in infancy0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0008872HP:0008872Feeding difficulties in infancy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0008872HP:0008872Feeding difficulties in infancy0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040281 - Very frequent159
HP:0008872HP:0008872Feeding difficulties in infancy0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0008872HP:0008872Feeding difficulties in infancy0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0008872HP:0008872Feeding difficulties in infancy0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0008872HP:0008872Feeding difficulties in infancy0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0008872HP:0008872Feeding difficulties in infancy0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0008872HP:0008872Feeding difficulties in infancy0DLEC1 CL E G H99402899ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008872HP:0008872Feeding difficulties in infancy0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0008872HP:0008872Feeding difficulties in infancy0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0008872HP:0008872Feeding difficulties in infancy0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0008872HP:0008872Feeding difficulties in infancy0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0008872HP:0008872Feeding difficulties in infancy0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0008872HP:0008872Feeding difficulties in infancy0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0008872HP:0008872Feeding difficulties in infancy0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0008872HP:0008872Feeding difficulties in infancy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0008872HP:0008872Feeding difficulties in infancy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0008872HP:0008872Feeding difficulties in infancy0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0008872HP:0008872Feeding difficulties in infancy0DPYS CL E G H18073013OMIM:222748Dihydropyrimidinuria.44
HP:0008872HP:0008872Feeding difficulties in infancy0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0008872HP:0008872Feeding difficulties in infancy0DUOX2 CL E G H5050613273ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent121
HP:0008872HP:0008872Feeding difficulties in infancy0DUOXA2 CL E G H40575332698ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent11
HP:0008872HP:0008872Feeding difficulties in infancy0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040283 - Occasional304
HP:0008872HP:0008872Feeding difficulties in infancy0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040283 - Occasional7
HP:0008872HP:0008872Feeding difficulties in infancy0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0008872HP:0008872Feeding difficulties in infancy0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0008872HP:0008872Feeding difficulties in infancy0ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0008872HP:0008872Feeding difficulties in infancy0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0008872HP:0008872Feeding difficulties in infancy0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0008872HP:0008872Feeding difficulties in infancy0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008872HP:0008872Feeding difficulties in infancy0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0008872HP:0008872Feeding difficulties in infancy0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040281 - Very frequent133
HP:0008872HP:0008872Feeding difficulties in infancy0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0008872HP:0008872Feeding difficulties in infancy0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040281 - Very frequent2
HP:0008872HP:0008872Feeding difficulties in infancy0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0008872HP:0008872Feeding difficulties in infancy0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0008872HP:0008872Feeding difficulties in infancy0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0008872HP:0008872Feeding difficulties in infancy0EPB41L1 CL E G H20363378OMIM:614257MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD1129
HP:0008872HP:0008872Feeding difficulties in infancy0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0008872HP:0008872Feeding difficulties in infancy0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0008872HP:0008872Feeding difficulties in infancy0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040282 - Frequent81
HP:0008872HP:0008872Feeding difficulties in infancy0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0008872HP:0008872Feeding difficulties in infancy0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0008872HP:0008872Feeding difficulties in infancy0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent114
HP:0008872HP:0008872Feeding difficulties in infancy0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0008872HP:0008872Feeding difficulties in infancy0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008872HP:0008872Feeding difficulties in infancy0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0008872HP:0008872Feeding difficulties in infancy0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0008872HP:0008872Feeding difficulties in infancy0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0008872HP:0008872Feeding difficulties in infancy0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0008872HP:0008872Feeding difficulties in infancy0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0008872HP:0008872Feeding difficulties in infancy0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0008872HP:0008872Feeding difficulties in infancy0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0008872HP:0008872Feeding difficulties in infancy0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040282 - Frequent175
HP:0008872HP:0008872Feeding difficulties in infancy0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0008872HP:0008872Feeding difficulties in infancy0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0008872HP:0008872Feeding difficulties in infancy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0008872HP:0008872Feeding difficulties in infancy0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0008872HP:0008872Feeding difficulties in infancy0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0008872HP:0008872Feeding difficulties in infancy0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040281 - Very frequent8
HP:0008872HP:0008872Feeding difficulties in infancy0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0FLNA CL E G H23163754OMIM:300048Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.493
HP:0008872HP:0008872Feeding difficulties in infancy0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0008872HP:0008872Feeding difficulties in infancy0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0008872HP:0008872Feeding difficulties in infancy0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0008872HP:0008872Feeding difficulties in infancy0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0008872HP:0008872Feeding difficulties in infancy0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0008872HP:0008872Feeding difficulties in infancy0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0008872HP:0008872Feeding difficulties in infancy0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0008872HP:0008872Feeding difficulties in infancy0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0008872HP:0008872Feeding difficulties in infancy0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0008872HP:0008872Feeding difficulties in infancy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0008872HP:0008872Feeding difficulties in infancy0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0008872HP:0008872Feeding difficulties in infancy0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0008872HP:0008872Feeding difficulties in infancy0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0008872HP:0008872Feeding difficulties in infancy0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0008872HP:0008872Feeding difficulties in infancy0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0008872HP:0008872Feeding difficulties in infancy0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0008872HP:0008872Feeding difficulties in infancy0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008872HP:0008872Feeding difficulties in infancy0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0008872HP:0008872Feeding difficulties in infancy0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0008872HP:0008872Feeding difficulties in infancy0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0008872HP:0008872Feeding difficulties in infancy0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0008872HP:0008872Feeding difficulties in infancy0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0008872HP:0008872Feeding difficulties in infancy0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0008872HP:0008872Feeding difficulties in infancy0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008872HP:0008872Feeding difficulties in infancy0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type II240
HP:0008872HP:0008872Feeding difficulties in infancy0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0008872HP:0008872Feeding difficulties in infancy0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0008872HP:0008872Feeding difficulties in infancy0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0008872HP:0008872Feeding difficulties in infancy0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0008872HP:0008872Feeding difficulties in infancy0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0008872HP:0008872Feeding difficulties in infancy0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0008872HP:0008872Feeding difficulties in infancy0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0008872HP:0008872Feeding difficulties in infancy0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0008872HP:0008872Feeding difficulties in infancy0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0008872HP:0008872Feeding difficulties in infancy0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0008872HP:0008872Feeding difficulties in infancy0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0008872HP:0008872Feeding difficulties in infancy0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0008872HP:0008872Feeding difficulties in infancy0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0008872HP:0008872Feeding difficulties in infancy0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0008872HP:0008872Feeding difficulties in infancy0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0008872HP:0008872Feeding difficulties in infancy0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0008872HP:0008872Feeding difficulties in infancy0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency.148
HP:0008872HP:0008872Feeding difficulties in infancy0HMGA2 CL E G H80915009OMIM:618908SILVER-RUSSELL SYNDROME 5; SRS52
HP:0008872HP:0008872Feeding difficulties in infancy0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent2
HP:0008872HP:0008872Feeding difficulties in infancy0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0008872HP:0008872Feeding difficulties in infancy0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0008872HP:0008872Feeding difficulties in infancy0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0008872HP:0008872Feeding difficulties in infancy0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0008872HP:0008872Feeding difficulties in infancy0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency.98
HP:0008872HP:0008872Feeding difficulties in infancy0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0008872HP:0008872Feeding difficulties in infancy0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0008872HP:0008872Feeding difficulties in infancy0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0008872HP:0008872Feeding difficulties in infancy0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0008872HP:0008872Feeding difficulties in infancy0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040282 - Frequent31
HP:0008872HP:0008872Feeding difficulties in infancy0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008872HP:0008872Feeding difficulties in infancy0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040283 - Occasional148
HP:0008872HP:0008872Feeding difficulties in infancy0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040283 - Occasional48
HP:0008872HP:0008872Feeding difficulties in infancy0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040283 - Occasional65
HP:0008872HP:0008872Feeding difficulties in infancy0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0008872HP:0008872Feeding difficulties in infancy0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent9
HP:0008872HP:0008872Feeding difficulties in infancy0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040282 - Frequent9
HP:0008872HP:0008872Feeding difficulties in infancy0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional14
HP:0008872HP:0008872Feeding difficulties in infancy0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional196
HP:0008872HP:0008872Feeding difficulties in infancy0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0008872HP:0008872Feeding difficulties in infancy0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040282 - Frequent111
HP:0008872HP:0008872Feeding difficulties in infancy0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent111
HP:0008872HP:0008872Feeding difficulties in infancy0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0008872HP:0008872Feeding difficulties in infancy0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0008872HP:0008872Feeding difficulties in infancy0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0008872HP:0008872Feeding difficulties in infancy0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0008872HP:0008872Feeding difficulties in infancy0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0008872HP:0008872Feeding difficulties in infancy0IYD CL E G H38943421071ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent130
HP:0008872HP:0008872Feeding difficulties in infancy0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0008872HP:0008872Feeding difficulties in infancy0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0008872HP:0008872Feeding difficulties in infancy0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0008872HP:0008872Feeding difficulties in infancy0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0008872HP:0008872Feeding difficulties in infancy0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0008872HP:0008872Feeding difficulties in infancy0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0008872HP:0008872Feeding difficulties in infancy0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0008872HP:0008872Feeding difficulties in infancy0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0008872HP:0008872Feeding difficulties in infancy0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0008872HP:0008872Feeding difficulties in infancy0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040282 - Frequent24
HP:0008872HP:0008872Feeding difficulties in infancy0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0008872HP:0008872Feeding difficulties in infancy0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0008872HP:0008872Feeding difficulties in infancy0KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0008872HP:0008872Feeding difficulties in infancy0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0008872HP:0008872Feeding difficulties in infancy0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0008872HP:0008872Feeding difficulties in infancy0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0008872HP:0008872Feeding difficulties in infancy0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040282 - Frequent196
HP:0008872HP:0008872Feeding difficulties in infancy0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0008872HP:0008872Feeding difficulties in infancy0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0008872HP:0008872Feeding difficulties in infancy0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient.411
HP:0008872HP:0008872Feeding difficulties in infancy0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0008872HP:0008872Feeding difficulties in infancy0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0008872HP:0008872Feeding difficulties in infancy0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0008872HP:0008872Feeding difficulties in infancy0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0008872HP:0008872Feeding difficulties in infancy0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0008872HP:0008872Feeding difficulties in infancy0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency8
HP:0008872HP:0008872Feeding difficulties in infancy0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional125
HP:0008872HP:0008872Feeding difficulties in infancy0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0008872HP:0008872Feeding difficulties in infancy0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0008872HP:0008872Feeding difficulties in infancy0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040282 - Frequent43
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent63
HP:0008872HP:0008872Feeding difficulties in infancy0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0008872HP:0008872Feeding difficulties in infancy0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0008872HP:0008872Feeding difficulties in infancy0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0008872HP:0008872Feeding difficulties in infancy0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0008872HP:0008872Feeding difficulties in infancy0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0008872HP:0008872Feeding difficulties in infancy0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0008872HP:0008872Feeding difficulties in infancy0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0008872HP:0008872Feeding difficulties in infancy0MECP2 CL E G H42046990OMIM:300673Encephalopathy, neonatal severe, due to mecp2 mutations.950
HP:0008872HP:0008872Feeding difficulties in infancy0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0008872HP:0008872Feeding difficulties in infancy0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008872HP:0008872Feeding difficulties in infancy0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0008872HP:0008872Feeding difficulties in infancy0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDG39
HP:0008872HP:0008872Feeding difficulties in infancy0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0008872HP:0008872Feeding difficulties in infancy0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0008872HP:0008872Feeding difficulties in infancy0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040282 - Frequent127
HP:0008872HP:0008872Feeding difficulties in infancy0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0008872HP:0008872Feeding difficulties in infancy0MMAA CL E G H16678518871OMIM:251100Methylmalonic aciduria, Cbla type.113
HP:0008872HP:0008872Feeding difficulties in infancy0MMAB CL E G H32662519331OMIM:251110Methylmalonic aciduria, Cblb type.127
HP:0008872HP:0008872Feeding difficulties in infancy0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0008872HP:0008872Feeding difficulties in infancy0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0008872HP:0008872Feeding difficulties in infancy0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0008872HP:0008872Feeding difficulties in infancy0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0008872HP:0008872Feeding difficulties in infancy0MRPS16 CL E G H5102114048OMIM:610498Combined oxidative phosphorylation deficiency 2.60
HP:0008872HP:0008872Feeding difficulties in infancy0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0008872HP:0008872Feeding difficulties in infancy0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040283 - Occasional183
HP:0008872HP:0008872Feeding difficulties in infancy0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0008872HP:0008872Feeding difficulties in infancy0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0008872HP:0008872Feeding difficulties in infancy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0008872HP:0008872Feeding difficulties in infancy0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0008872HP:0008872Feeding difficulties in infancy0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent166
HP:0008872HP:0008872Feeding difficulties in infancy0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0008872HP:0008872Feeding difficulties in infancy0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0008872HP:0008872Feeding difficulties in infancy0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0008872HP:0008872Feeding difficulties in infancy0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0008872HP:0008872Feeding difficulties in infancy0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040281 - Very frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040281 - Very frequent48
HP:0008872HP:0008872Feeding difficulties in infancy0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0008872HP:0008872Feeding difficulties in infancy0NAPB CL E G H6390815751OMIM:6200332
HP:0008872HP:0008872Feeding difficulties in infancy0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0008872HP:0008872Feeding difficulties in infancy0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0008872HP:0008872Feeding difficulties in infancy0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0008872HP:0008872Feeding difficulties in infancy0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0008872HP:0008872Feeding difficulties in infancy0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0008872HP:0008872Feeding difficulties in infancy0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0008872HP:0008872Feeding difficulties in infancy0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0008872HP:0008872Feeding difficulties in infancy0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0008872HP:0008872Feeding difficulties in infancy0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0008872HP:0008872Feeding difficulties in infancy0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0008872HP:0008872Feeding difficulties in infancy0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0008872HP:0008872Feeding difficulties in infancy0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0008872HP:0008872Feeding difficulties in infancy0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040282 - Frequent102
HP:0008872HP:0008872Feeding difficulties in infancy0NRCAM CL E G H48977994OMIM:6198332
HP:0008872HP:0008872Feeding difficulties in infancy0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040282 - Frequent544
HP:0008872HP:0008872Feeding difficulties in infancy0NUDT2 CL E G H3188049OMIM:619844
HP:0008872HP:0008872Feeding difficulties in infancy0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0008872HP:0008872Feeding difficulties in infancy0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent121
HP:0008872HP:0008872Feeding difficulties in infancy0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent121
HP:0008872HP:0008872Feeding difficulties in infancy0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent121
HP:0008872HP:0008872Feeding difficulties in infancy0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0008872HP:0008872Feeding difficulties in infancy0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0008872HP:0008872Feeding difficulties in infancy0OFD1 CL E G H84812567OMIM:300804Joubert syndrome 10201
HP:0008872HP:0008872Feeding difficulties in infancy0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0008872HP:0008872Feeding difficulties in infancy0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0008872HP:0008872Feeding difficulties in infancy0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0008872HP:0008872Feeding difficulties in infancy0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008872HP:0008872Feeding difficulties in infancy0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0008872HP:0008872Feeding difficulties in infancy0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0008872HP:0008872Feeding difficulties in infancy0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0008872HP:0008872Feeding difficulties in infancy0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0008872HP:0008872Feeding difficulties in infancy0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0008872HP:0008872Feeding difficulties in infancy0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0008872HP:0008872Feeding difficulties in infancy0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0008872HP:0008872Feeding difficulties in infancy0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0008872HP:0008872Feeding difficulties in infancy0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiency88
HP:0008872HP:0008872Feeding difficulties in infancy0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndrome54
HP:0008872HP:0008872Feeding difficulties in infancy0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0008872HP:0008872Feeding difficulties in infancy0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0008872HP:0008872Feeding difficulties in infancy0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0008872HP:0008872Feeding difficulties in infancy0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0PEX12 CL E G H51938854OMIM:614859Peroxisome biogenesis disorder 3A (Zellweger).65
HP:0008872HP:0008872Feeding difficulties in infancy0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0008872HP:0008872Feeding difficulties in infancy0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0008872HP:0008872Feeding difficulties in infancy0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0008872HP:0008872Feeding difficulties in infancy0PEX16 CL E G H94098857OMIM:614876Peroxisome biogenesis disorder 8A (Zellweger).59
HP:0008872HP:0008872Feeding difficulties in infancy0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0008872HP:0008872Feeding difficulties in infancy0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0008872HP:0008872Feeding difficulties in infancy0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0008872HP:0008872Feeding difficulties in infancy0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0008872HP:0008872Feeding difficulties in infancy0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0008872HP:0008872Feeding difficulties in infancy0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0008872HP:0008872Feeding difficulties in infancy0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0008872HP:0008872Feeding difficulties in infancy0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0008872HP:0008872Feeding difficulties in infancy0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0008872HP:0008872Feeding difficulties in infancy0PEX6 CL E G H51908859OMIM:614862Peroxisome biogenesis disorder 4A (Zellweger).98
HP:0008872HP:0008872Feeding difficulties in infancy0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0008872HP:0008872Feeding difficulties in infancy0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0008872HP:0008872Feeding difficulties in infancy0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0008872HP:0008872Feeding difficulties in infancy0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0008872HP:0008872Feeding difficulties in infancy0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040282 - Frequent29
HP:0008872HP:0008872Feeding difficulties in infancy0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0008872HP:0008872Feeding difficulties in infancy0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0008872HP:0008872Feeding difficulties in infancy0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0008872HP:0008872Feeding difficulties in infancy0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040282 - Frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0008872HP:0008872Feeding difficulties in infancy0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0008872HP:0008872Feeding difficulties in infancy0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome12
HP:0008872HP:0008872Feeding difficulties in infancy0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0008872HP:0008872Feeding difficulties in infancy0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0008872HP:0008872Feeding difficulties in infancy0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0008872HP:0008872Feeding difficulties in infancy0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0008872HP:0008872Feeding difficulties in infancy0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0008872HP:0008872Feeding difficulties in infancy0PLAG1 CL E G H53249045OMIM:618907SILVER-RUSSELL SYNDROME 4; SRS43
HP:0008872HP:0008872Feeding difficulties in infancy0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040281 - Very frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0008872HP:0008872Feeding difficulties in infancy0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0008872HP:0008872Feeding difficulties in infancy0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0008872HP:0008872Feeding difficulties in infancy0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0008872HP:0008872Feeding difficulties in infancy0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0008872HP:0008872Feeding difficulties in infancy0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008872HP:0008872Feeding difficulties in infancy0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0008872HP:0008872Feeding difficulties in infancy0POLR1B CL E G H8417220454OMIM:618939TREACHER COLLINS SYNDROME 4; TCS4
HP:0008872HP:0008872Feeding difficulties in infancy0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0008872HP:0008872Feeding difficulties in infancy0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0008872HP:0008872Feeding difficulties in infancy0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0008872HP:0008872Feeding difficulties in infancy0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0008872HP:0008872Feeding difficulties in infancy0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008872HP:0008872Feeding difficulties in infancy0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0008872HP:0008872Feeding difficulties in infancy0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0008872HP:0008872Feeding difficulties in infancy0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0008872HP:0008872Feeding difficulties in infancy0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0008872HP:0008872Feeding difficulties in infancy0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0008872HP:0008872Feeding difficulties in infancy0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional63
HP:0008872HP:0008872Feeding difficulties in infancy0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0008872HP:0008872Feeding difficulties in infancy0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0008872HP:0008872Feeding difficulties in infancy0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0008872HP:0008872Feeding difficulties in infancy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0008872HP:0008872Feeding difficulties in infancy0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040283 - Occasional81
HP:0008872HP:0008872Feeding difficulties in infancy0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040281 - Very frequent27
HP:0008872HP:0008872Feeding difficulties in infancy0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0008872HP:0008872Feeding difficulties in infancy0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0008872HP:0008872Feeding difficulties in infancy0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0008872HP:0008872Feeding difficulties in infancy0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0008872HP:0008872Feeding difficulties in infancy0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0008872HP:0008872Feeding difficulties in infancy0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040282 - Frequent291
HP:0008872HP:0008872Feeding difficulties in infancy0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0008872HP:0008872Feeding difficulties in infancy0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008872HP:0008872Feeding difficulties in infancy0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0008872HP:0008872Feeding difficulties in infancy0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0008872HP:0008872Feeding difficulties in infancy0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040281 - Very frequent53
HP:0008872HP:0008872Feeding difficulties in infancy0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0008872HP:0008872Feeding difficulties in infancy0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0008872HP:0008872Feeding difficulties in infancy0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0008872HP:0008872Feeding difficulties in infancy0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0008872HP:0008872Feeding difficulties in infancy0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0008872HP:0008872Feeding difficulties in infancy0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040282 - Frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0008872HP:0008872Feeding difficulties in infancy0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040282 - Frequent212
HP:0008872HP:0008872Feeding difficulties in infancy0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040281 - Very frequent150
HP:0008872HP:0008872Feeding difficulties in infancy0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0008872HP:0008872Feeding difficulties in infancy0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0008872HP:0008872Feeding difficulties in infancy0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0008872HP:0008872Feeding difficulties in infancy0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0008872HP:0008872Feeding difficulties in infancy0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0008872HP:0008872Feeding difficulties in infancy0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040282 - Frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0008872HP:0008872Feeding difficulties in infancy0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0008872HP:0008872Feeding difficulties in infancy0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0008872HP:0008872Feeding difficulties in infancy0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0008872HP:0008872Feeding difficulties in infancy0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040282 - Frequent39
HP:0008872HP:0008872Feeding difficulties in infancy0RNF13 CL E G H1134210057OMIM:618379DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0008872HP:0008872Feeding difficulties in infancy0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathy
HP:0008872HP:0008872Feeding difficulties in infancy0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0008872HP:0008872Feeding difficulties in infancy0RNF6 CL E G H604910069ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent3
HP:0008872HP:0008872Feeding difficulties in infancy0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent167
HP:0008872HP:0008872Feeding difficulties in infancy0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0008872HP:0008872Feeding difficulties in infancy0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0008872HP:0008872Feeding difficulties in infancy0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0008872HP:0008872Feeding difficulties in infancy0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040281 - Very frequent
HP:0008872HP:0008872Feeding difficulties in infancy0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008872HP:0008872Feeding difficulties in infancy0RTL1 CL E G H38801514665ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0008872HP:0008872Feeding difficulties in infancy0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0008872HP:0008872Feeding difficulties in infancy0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0008872HP:0008872Feeding difficulties in infancy0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0008872HP:0008872Feeding difficulties in infancy0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0008872HP:0008872Feeding difficulties in infancy0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0008872HP:0008872Feeding difficulties in infancy0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0008872HP:0008872Feeding difficulties in infancy0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040283 - Occasional263
HP:0008872HP:0008872Feeding difficulties in infancy0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0008872HP:0008872Feeding difficulties in infancy0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0008872HP:0008872Feeding difficulties in infancy0SCNN1A CL E G H633710599OMIM:264350Pseudohypoaldosteronism, type I, autosomal recessive.67
HP:0008872HP:0008872Feeding difficulties in infancy0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0008872HP:0008872Feeding difficulties in infancy0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0008872HP:0008872Feeding difficulties in infancy0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0008872HP:0008872Feeding difficulties in infancy0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathy40
HP:0008872HP:0008872Feeding difficulties in infancy0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0008872HP:0008872Feeding difficulties in infancy0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0008872HP:0008872Feeding difficulties in infancy0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0008872HP:0008872Feeding difficulties in infancy0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0008872HP:0008872Feeding difficulties in infancy0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0008872HP:0008872Feeding difficulties in infancy0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0008872HP:0008872Feeding difficulties in infancy0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional137
HP:0008872HP:0008872Feeding difficulties in infancy0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0008872HP:0008872Feeding difficulties in infancy0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0008872HP:0008872Feeding difficulties in infancy0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0008872HP:0008872Feeding difficulties in infancy0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0008872HP:0008872Feeding difficulties in infancy0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0008872HP:0008872Feeding difficulties in infancy0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0008872HP:0008872Feeding difficulties in infancy0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0008872HP:0008872Feeding difficulties in infancy0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0008872HP:0008872Feeding difficulties in infancy0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0008872HP:0008872Feeding difficulties in infancy0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0008872HP:0008872Feeding difficulties in infancy0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0008872HP:0008872Feeding difficulties in infancy0SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathy11
HP:0008872HP:0008872Feeding difficulties in infancy0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndrome40
HP:0008872HP:0008872Feeding difficulties in infancy0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0008872HP:0008872Feeding difficulties in infancy0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0008872HP:0008872Feeding difficulties in infancy0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0008872HP:0008872Feeding difficulties in infancy0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0008872HP:0008872Feeding difficulties in infancy0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0008872HP:0008872Feeding difficulties in infancy0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0008872HP:0008872Feeding difficulties in infancy0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome4
HP:0008872HP:0008872Feeding difficulties in infancy0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0008872HP:0008872Feeding difficulties in infancy0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0008872HP:0008872Feeding difficulties in infancy0SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathy166
HP:0008872HP:0008872Feeding difficulties in infancy0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0008872HP:0008872Feeding difficulties in infancy0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency3
HP:0008872HP:0008872Feeding difficulties in infancy0SLC5A5 CL E G H652811040ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent59
HP:0008872HP:0008872Feeding difficulties in infancy0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0008872HP:0008872Feeding difficulties in infancy0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0008872HP:0008872Feeding difficulties in infancy0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0008872HP:0008872Feeding difficulties in infancy0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0008872HP:0008872Feeding difficulties in infancy0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0008872HP:0008872Feeding difficulties in infancy0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0008872HP:0008872Feeding difficulties in infancy0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 81
HP:0008872HP:0008872Feeding difficulties in infancy0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0008872HP:0008872Feeding difficulties in infancy0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0008872HP:0008872Feeding difficulties in infancy0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0008872HP:0008872Feeding difficulties in infancy0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0008872HP:0008872Feeding difficulties in infancy0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0008872HP:0008872Feeding difficulties in infancy0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0008872HP:0008872Feeding difficulties in infancy0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0008872HP:0008872Feeding difficulties in infancy0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040282 - Frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040281 - Very frequent37
HP:0008872HP:0008872Feeding difficulties in infancy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0008872HP:0008872Feeding difficulties in infancy0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0008872HP:0008872Feeding difficulties in infancy0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040282 - Frequent315
HP:0008872HP:0008872Feeding difficulties in infancy0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040282 - Frequent30
HP:0008872HP:0008872Feeding difficulties in infancy0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008872HP:0008872Feeding difficulties in infancy0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0008872HP:0008872Feeding difficulties in infancy0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0008872HP:0008872Feeding difficulties in infancy0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0008872HP:0008872Feeding difficulties in infancy0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0008872HP:0008872Feeding difficulties in infancy0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0008872HP:0008872Feeding difficulties in infancy0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008872HP:0008872Feeding difficulties in infancy0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0008872HP:0008872Feeding difficulties in infancy0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0008872HP:0008872Feeding difficulties in infancy0SRP54 CL E G H672911301OMIM:618752NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0008872HP:0008872Feeding difficulties in infancy0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0008872HP:0008872Feeding difficulties in infancy0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0008872HP:0008872Feeding difficulties in infancy0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0008872HP:0008872Feeding difficulties in infancy0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0008872HP:0008872Feeding difficulties in infancy0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0008872HP:0008872Feeding difficulties in infancy0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0008872HP:0008872Feeding difficulties in infancy0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0008872HP:0008872Feeding difficulties in infancy0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040282 - Frequent124
HP:0008872HP:0008872Feeding difficulties in infancy0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathy73
HP:0008872HP:0008872Feeding difficulties in infancy0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040282 - Frequent1
HP:0008872HP:0008872Feeding difficulties in infancy0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0008872HP:0008872Feeding difficulties in infancy0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0008872HP:0008872Feeding difficulties in infancy0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0008872HP:0008872Feeding difficulties in infancy0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0008872HP:0008872Feeding difficulties in infancy0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0008872HP:0008872Feeding difficulties in infancy0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0008872HP:0008872Feeding difficulties in infancy0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0008872HP:0008872Feeding difficulties in infancy0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0008872HP:0008872Feeding difficulties in infancy0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0008872HP:0008872Feeding difficulties in infancy0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040282 - Frequent45
HP:0008872HP:0008872Feeding difficulties in infancy0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040282 - Frequent76
HP:0008872HP:0008872Feeding difficulties in infancy0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0008872HP:0008872Feeding difficulties in infancy0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0008872HP:0008872Feeding difficulties in infancy0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0008872HP:0008872Feeding difficulties in infancy0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0008872HP:0008872Feeding difficulties in infancy0TG CL E G H703811764ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent155
HP:0008872HP:0008872Feeding difficulties in infancy0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0008872HP:0008872Feeding difficulties in infancy0TGFBR2 CL E G H704811773ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent253
HP:0008872HP:0008872Feeding difficulties in infancy0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0008872HP:0008872Feeding difficulties in infancy0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008872HP:0008872Feeding difficulties in infancy0TIMMDC1 CL E G H513001321OMIM:618251MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN311
HP:0008872HP:0008872Feeding difficulties in infancy0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0008872HP:0008872Feeding difficulties in infancy0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0008872HP:0008872Feeding difficulties in infancy0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040282 - Frequent82
HP:0008872HP:0008872Feeding difficulties in infancy0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040282 - Frequent166
HP:0008872HP:0008872Feeding difficulties in infancy0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent166
HP:0008872HP:0008872Feeding difficulties in infancy0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0008872HP:0008872Feeding difficulties in infancy0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0008872HP:0008872Feeding difficulties in infancy0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0008872HP:0008872Feeding difficulties in infancy0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0008872HP:0008872Feeding difficulties in infancy0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0008872HP:0008872Feeding difficulties in infancy0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0008872HP:0008872Feeding difficulties in infancy0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0008872HP:0008872Feeding difficulties in infancy0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0008872HP:0008872Feeding difficulties in infancy0TPO CL E G H717312015ORPHA:95716Familial thyroid dyshormonogenesisHP:0040282 - Frequent92
HP:0008872HP:0008872Feeding difficulties in infancy0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040283 - Occasional4
HP:0008872HP:0008872Feeding difficulties in infancy0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0008872HP:0008872Feeding difficulties in infancy0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0008872HP:0008872Feeding difficulties in infancy0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0008872HP:0008872Feeding difficulties in infancy0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0008872HP:0008872Feeding difficulties in infancy0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0008872HP:0008872Feeding difficulties in infancy0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0008872HP:0008872Feeding difficulties in infancy0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0008872HP:0008872Feeding difficulties in infancy0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0008872HP:0008872Feeding difficulties in infancy0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0008872HP:0008872Feeding difficulties in infancy0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0008872HP:0008872Feeding difficulties in infancy0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0008872HP:0008872Feeding difficulties in infancy0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0008872HP:0008872Feeding difficulties in infancy0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0008872HP:0008872Feeding difficulties in infancy0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0008872HP:0008872Feeding difficulties in infancy0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040283 - Occasional132
HP:0008872HP:0008872Feeding difficulties in infancy0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0008872HP:0008872Feeding difficulties in infancy0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0008872HP:0008872Feeding difficulties in infancy0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0008872HP:0008872Feeding difficulties in infancy0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0008872HP:0008872Feeding difficulties in infancy0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0008872HP:0008872Feeding difficulties in infancy0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0008872HP:0008872Feeding difficulties in infancy0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0008872HP:0008872Feeding difficulties in infancy0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0008872HP:0008872Feeding difficulties in infancy0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1
HP:0008872HP:0008872Feeding difficulties in infancy0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0008872HP:0008872Feeding difficulties in infancy0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0008872HP:0008872Feeding difficulties in infancy0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008872HP:0008872Feeding difficulties in infancy0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0008872HP:0008872Feeding difficulties in infancy0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0008872HP:0008872Feeding difficulties in infancy0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0008872HP:0008872Feeding difficulties in infancy0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0008872HP:0008872Feeding difficulties in infancy0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0008872HP:0008872Feeding difficulties in infancy0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0008872HP:0008872Feeding difficulties in infancy0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0008872HP:0008872Feeding difficulties in infancy0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040282 - Frequent546
HP:0008872HP:0008872Feeding difficulties in infancy0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0008872HP:0008872Feeding difficulties in infancy0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0008872HP:0008872Feeding difficulties in infancy0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040283 - Occasional95
HP:0008872HP:0008872Feeding difficulties in infancy0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0008872HP:0008872Feeding difficulties in infancy0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040282 - Frequent389
HP:0008872HP:0008872Feeding difficulties in infancy0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0008872HP:0008872Feeding difficulties in infancy0WWOX CL E G H5174112799ORPHA:99977Squamous cell carcinoma of the esophagusHP:0040281 - Very frequent149
HP:0008872HP:0008872Feeding difficulties in infancy0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0008872HP:0008872Feeding difficulties in infancy0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0008872HP:0008872Feeding difficulties in infancy0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0008872HP:0008872Feeding difficulties in infancy0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0008872HP:0008872Feeding difficulties in infancy0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0008872HP:0008872Feeding difficulties in infancy0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0008872HP:0008872Feeding difficulties in infancy0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0008872HP:0008872Feeding difficulties in infancy0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0008872HP:0008872Feeding difficulties in infancy0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0008872HP:0008872Feeding difficulties in infancy0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0008872HP:0002033Poor suck1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0008872HP:0011470Nasogastric tube feeding in infancy1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0008872HP: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:0008872HP:0011469Nasal regurgitation1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0008872HP:0002033Poor suck1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0008872HP:0002033Poor suck1ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040282 - Frequent6
HP:0008872HP:0002033Poor suck1ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040284 - Very rare48
HP:0008872HP:0002033Poor suck1ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0008872HP:0002033Poor suck1ATP6V0A1 CL E G H535865OMIM:6199701
HP:0008872HP:0002033Poor suck1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0008872HP:0002033Poor suck1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0008872HP:0002033Poor suck1ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 132
HP:0008872HP:0002033Poor suck1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0008872HP:0030884Gastrojejunal tube feeding in infancy1B3GALT6 CL E G H12679217978OMIM:609465AL-GAZALI SYNDROME38
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0008872HP:0002033Poor suck1BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040282 - Frequent38
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0008872HP:0011470Nasogastric tube feeding in infancy1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0008872HP:0002033Poor suck1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0008872HP:0002033Poor suck1CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1003
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0008872HP:0002033Poor suck1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent200
HP:0008872HP:0002033Poor suck1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0008872HP:0002033Poor suck1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent200
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0008872HP:0002033Poor suck1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent200
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional200
HP:0008872HP:0002033Poor suck1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0008872HP:0011469Nasal regurgitation1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0008872HP:0002033Poor suck1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0008872HP:0002033Poor suck1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0008872HP:0002033Poor suck1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0008872HP:0002033Poor suck1CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0008872HP:0002033Poor suck1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0008872HP:0011470Nasogastric tube feeding in infancy1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0008872HP:0002033Poor suck1CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0008872HP:0002033Poor suck1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0008872HP:0011469Nasal regurgitation1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0008872HP:0002033Poor suck1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0008872HP:0011470Nasogastric tube feeding in infancy1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0008872HP:0002033Poor suck1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0008872HP:0011470Nasogastric tube feeding in infancy1COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0008872HP:0011470Nasogastric tube feeding in infancy1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0008872HP:0011470Nasogastric tube feeding in infancy1CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DALRD3 CL E G H5515225536OMIM:618910DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent27
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0008872HP:0002033Poor suck1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0008872HP:0002033Poor suck1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent22
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0008872HP:0002033Poor suck1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0008872HP:0002033Poor suck1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent22
HP:0008872HP:0002033Poor suck1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent22
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional22
HP:0008872HP:0002033Poor suck1DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0008872HP:0002033Poor suck1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0008872HP:0002033Poor suck1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0008872HP:0002033Poor suck1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0008872HP:0002033Poor suck1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional3
HP:0008872HP:0002033Poor suck1DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040282 - Frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0008872HP:0002033Poor suck1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0008872HP:0002033Poor suck1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0008872HP:0011470Nasogastric tube feeding in infancy1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0008872HP:0002033Poor suck1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0008872HP:0002033Poor suck1ECHS1 CL E G H18923151OMIM:616277Mitochondrial short-chain enoyl-coa hydratase 1 deficiency33
HP:0008872HP:0011470Nasogastric tube feeding in infancy1EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0008872HP:0030884Gastrojejunal tube feeding in infancy1EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0008872HP:0011470Nasogastric tube feeding in infancy1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040282 - Frequent114
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008872HP:0002033Poor suck1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent17
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0008872HP:0002033Poor suck1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0008872HP:0002033Poor suck1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent17
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0008872HP:0002033Poor suck1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent17
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional17
HP:0008872HP:0002033Poor suck1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0008872HP:0002033Poor suck1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent172
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0008872HP:0002033Poor suck1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent48
HP:0008872HP:0002033Poor suck1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0008872HP:0002033Poor suck1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent48
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0008872HP:0002033Poor suck1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent48
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional48
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0008872HP:0011470Nasogastric tube feeding in infancy1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent2
HP:0008872HP:0002033Poor suck1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional2
HP:0008872HP:0011470Nasogastric tube feeding in infancy1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0008872HP:0002033Poor suck1GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0008872HP:0002033Poor suck1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent173
HP:0008872HP:0002033Poor suck1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0008872HP:0002033Poor suck1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent173
HP:0008872HP:0002033Poor suck1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent173
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional173
HP:0008872HP:0002033Poor suck1GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0008872HP:0002033Poor suck1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040284 - Very rare240
HP:0008872HP:0011470Nasogastric tube feeding in infancy1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0008872HP:0011469Nasal regurgitation1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0008872HP:0002033Poor suck1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040282 - Frequent12
HP:0008872HP:0011470Nasogastric tube feeding in infancy1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0008872HP:0011470Nasogastric tube feeding in infancy1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0008872HP:0002033Poor suck1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0008872HP:0002033Poor suck1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0008872HP: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:0008872HP: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:0008872HP:0002033Poor suck1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040283 - Occasional113
HP:0008872HP:0002033Poor suck1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0008872HP:0002033Poor suck1HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0008872HP:0002033Poor suck1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008872HP:0011470Nasogastric tube feeding in infancy1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0008872HP:0002033Poor suck1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0008872HP:0002033Poor suck1IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040282 - Frequent99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040282 - Frequent3
HP:0008872HP:0011470Nasogastric tube feeding in infancy1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0008872HP:0011470Nasogastric tube feeding in infancy1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0008872HP:0011470Nasogastric tube feeding in infancy1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1KLHL40 CL E G H13137730372OMIM:615348NEMALINE MYOPATHY 8; NEM828
HP:0008872HP:0002033Poor suck1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent110
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040282 - Frequent173
HP:0008872HP:0002033Poor suck1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040283 - Occasional191
HP:0008872HP:0002033Poor suck1LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0008872HP:0002033Poor suck1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0008872HP:0002033Poor suck1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0008872HP:0002033Poor suck1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0008872HP:0011470Nasogastric tube feeding in infancy1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040283 - Occasional39
HP:0008872HP:0002033Poor suck1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0008872HP:0002033Poor suck1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0008872HP:0002033Poor suck1MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040282 - Frequent12
HP:0008872HP:0002033Poor suck1MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0008872HP:0011470Nasogastric tube feeding in infancy1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0008872HP:0011469Nasal regurgitation1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0008872HP:0002033Poor suck1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0008872HP:0011470Nasogastric tube feeding in infancy1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0008872HP:0002033Poor suck1NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent31
HP:0008872HP:0002033Poor suck1NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent65
HP:0008872HP:0002033Poor suck1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0008872HP:0002033Poor suck1NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040282 - Frequent4
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0008872HP:0002033Poor suck1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent45
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0008872HP:0002033Poor suck1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0008872HP:0002033Poor suck1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent45
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0008872HP:0002033Poor suck1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent45
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional45
HP:0008872HP:0002033Poor suck1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0008872HP:0002033Poor suck1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1NRCAM CL E G H48977994OMIM:6198332
HP:0008872HP:0002033Poor suck1NUDT2 CL E G H3188049OMIM:619844
HP:0008872HP:0002033Poor suck1OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0008872HP:0011470Nasogastric tube feeding in infancy1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0008872HP:0002033Poor suck1PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040282 - Frequent337
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040283 - Occasional54
HP:0008872HP:0002033Poor suck1PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0008872HP:0002033Poor suck1PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0008872HP:0002033Poor suck1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0008872HP:0011470Nasogastric tube feeding in infancy1PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0008872HP:0002033Poor suck1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0008872HP:0002033Poor suck1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008872HP:0002033Poor suck1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0008872HP:0002033Poor suck1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.HP:0003593 - Infantile onset28
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0008872HP:0011470Nasogastric tube feeding in infancy1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0008872HP:0002033Poor suck1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent665
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0008872HP:0002033Poor suck1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0008872HP:0002033Poor suck1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent665
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0008872HP:0002033Poor suck1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent665
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional665
HP:0008872HP:0002033Poor suck1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008872HP:0002033Poor suck1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0008872HP:0011470Nasogastric tube feeding in infancy1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0008872HP:0002033Poor suck1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0008872HP:0002033Poor suck1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0008872HP:0002033Poor suck1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0008872HP:0002033Poor suck1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0008872HP:0002033Poor suck1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0008872HP:0002033Poor suck1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040282 - Frequent80
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040282 - Frequent
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0008872HP:0002033Poor suck1SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0008872HP:0011470Nasogastric tube feeding in infancy1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0008872HP:0002033Poor suck1SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent40
HP:0008872HP:0011470Nasogastric tube feeding in infancy1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0008872HP:0002033Poor suck1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent66
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0008872HP:0002033Poor suck1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0008872HP:0002033Poor suck1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0008872HP:0002033Poor suck1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0008872HP:0002033Poor suck1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional67
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0008872HP:0002033Poor suck1SIK1 CL E G H15009411142ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent11
HP:0008872HP:0002033Poor suck1SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040282 - Frequent40
HP:0008872HP:0002033Poor suck1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0002033Poor suck1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0008872HP:0011469Nasal regurgitation1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0008872HP:0002033Poor suck1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0008872HP:0011469Nasal regurgitation1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0008872HP:0002033Poor suck1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0008872HP:0002033Poor suck1SLC25A22 CL E G H7975119954ORPHA:1935Early myoclonic encephalopathyHP:0040282 - Frequent166
HP:0008872HP:0002033Poor suck1SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency.3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0008872HP:0002033Poor suck1SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0008872HP:0011469Nasal regurgitation1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0008872HP:0002033Poor suck1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0008872HP:0002033Poor suck1SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0008872HP:0002033Poor suck1SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0008872HP:0002033Poor suck1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent135
HP:0008872HP:0002033Poor suck1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0008872HP:0011469Nasal regurgitation1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0008872HP:0002033Poor suck1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0008872HP:0002033Poor suck1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0008872HP:0011470Nasogastric tube feeding in infancy1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0008872HP:0002033Poor suck1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040281 - Very frequent37
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0008872HP:0002033Poor suck1SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 2714
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0008872HP:0002033Poor suck1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0008872HP:0002033Poor suck1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0002033Poor suck1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0002033Poor suck1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0008872HP:0002033Poor suck1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0008872HP:0002033Poor suck1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0008872HP:0002033Poor suck1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0008872HP:0002033Poor suck1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent99
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional99
HP:0008872HP:0002033Poor suck1SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040282 - Frequent73
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0008872HP:0011469Nasal regurgitation1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0008872HP:0002033Poor suck1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0008872HP:0002033Poor suck1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0008872HP:0002033Poor suck1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0002033Poor suck1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent1
HP:0008872HP:0002033Poor suck1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0002033Poor suck1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0002033Poor suck1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional1
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040283 - Occasional18
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0002033Poor suck1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0002033Poor suck1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional32
HP:0008872HP:0011469Nasal regurgitation1TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0008872HP:0002033Poor suck1TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040282 - Frequent140
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0008872HP:0002033Poor suck1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0008872HP:0002033Poor suck1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0008872HP:0002033Poor suck1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0008872HP:0011470Nasogastric tube feeding in infancy1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0008872HP:0002033Poor suck1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0008872HP:0002033Poor suck1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent84
HP:0008872HP:0002033Poor suck1TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B84
HP:0008872HP:0002033Poor suck1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent57
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0008872HP:0002033Poor suck1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040282 - Frequent102
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0008872HP:0002033Poor suck1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0008872HP:0011469Nasal regurgitation1TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0008872HP:0030884Gastrojejunal tube feeding in infancy1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0008872HP:0002033Poor suck1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040281 - Very frequent35
HP:0008872HP:0011469Nasal regurgitation1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040282 - Frequent
HP:0008872HP:0002033Poor suck1UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutationHP:0040283 - Occasional278
HP:0008872HP:0002033Poor suck1UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0008872HP:0002033Poor suck1UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15HP:0040283 - Occasional278
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0008872HP:0002033Poor suck1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008872HP:0011470Nasogastric tube feeding in infancy1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0008872HP:0002033Poor suck1UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0008872HP:0002033Poor suck1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0008872HP:0002033Poor suck1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0008872HP:0011469Nasal regurgitation1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0008872HP:0002033Poor suck1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0008872HP:0002033Poor suck1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040281 - Very frequent34
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0008872HP:0002033Poor suck1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0008872HP:0002033Poor suck1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040281 - Very frequent34
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0008872HP:0002033Poor suck1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040281 - Very frequent34
HP:0008872HP:0011471Gastrostomy tube feeding in infancy1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040283 - Occasional34
HP:0008872HP:0002033Poor suck1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (572) :AASS ACADS ACTA1 ACTL6B ACTN2 ADNP AFF4 AGRN AHI1 AIFM1 ALG12 ALG14 ALS2 AQP2 ARHGAP29 ARID1A ARID1B ARL13B ARL3 ARMC9 ARSA ARVCF ARX ASL ASPA ASXL1 ASXL2 ASXL3 ATAD3A ATP10A ATP6V0A1 ATP6V0A2 ATP6V1B2 ATP7A ATPAF2 ATRX AUTS2 AVPR2 B3GALT6 B3GLCT B9D1 B9D2 BCKDHA BCKDHB BCOR BCS1L BIN1 BLM BMP4 BRAF BRD4 BTD BUB1B C2CD3 CARS1 CASK CASR CASZ1 CBL CBY1 CC2D2A CCDC22 CCDC32 CDH1 CDK8 CDKN1C CDON CEP104 CEP120 CEP41 CHAT CHD7 CHRNA1 CHRNB1 CHRND CHRNE CISD2 CLCN6 CLDN16 CLEC7A CLN8 CLTCL1 CNOT2 CNOT3 CNTN1 COG1 COG5 COL13A1 COL1A1 COL2A1 COL6A1 COL6A2 COL6A3 COL7A1 COLQ COMT COQ2 COX10 COX16 COX8A CPLANE1 CPT1A CPT2 CREBBP CRLF1 CSPP1 CTCF CYP11B2 DALRD3 DBT DCHS1 DCX DDC DEAF1 DEGS1 DGUOK DHCR7 DISP1 DLEC1 DLG1 DLK1 DLL1 DLX4 DMPK DNM1L DPM1 DPYD DPYS DST DUOX2 DUOXA2 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A ECHS1 EDEM3 EED EFTUD2 EIF5A ELN ELP1 EMG1 EN1 EP300 EPB41L1 EPG5 ERCC1 ERCC2 ERCC5 ERCC6 ERCC8 EZH2 FAM149B1 FARS2 FARSA FAT4 FBN1 FDFT1 FGF8 FGFR1 FGFR2 FKRP FKTN FLCN FLI1 FLII FLNA FOXH1 FOXP1 FUS GAA GABRD GALC GAS1 GFM2 GGPS1 GLI2 GLRA2 GNB2 GNPTAB GOT2 GP1BB GPT2 GRB10 GRHL3 GRM7 GSX2 GTPBP3 H19 HACD1 HADH HADHA HADHB HDAC8 HERC2 HESX1 HIRA HLCS HMGA2 HNRNPK HRAS HSD17B4 HSPD1 HSPG2 HTRA2 HYLS1 IDH1 IFT140 IFT172 IFT80 IGF2 IL17F IL17RA IL17RC INPP5E IPW IQSEC2 IRF6 ITCH ITGA7 IYD JMJD1C KANSL1 KAT8 KATNIP KCNAB2 KCNK9 KDM3B KDM6A KIAA0586 KIAA0753 KIF15 KIF1A KIF7 KLHL40 KMT2D KMT5B KRAS KRT14 KRT5 LAMA2 LAMB2 LARGE1 LHX3 LHX4 LIFR LONP1 LRP5 LRPPRC LUZP1 LYRM4 LZTR1 MAGEL2 MAP2K1 MAP2K2 MAP3K20 MAP3K7 MCCC1 MECP2 MED12L MEG3 MGAT2 MID1 MKRN3 MKRN3-AS1 MKS1 MLXIPL MMAA MMAB MMACHC MMP23B MOCS1 MOGS MRAS MRPS16 MSX1 MTHFR MTM1 MTR MTRFR MYH3 MYL2 MYO1H MYO9A NAA20 NACC1 NALCN NAPB NDN NDUFAF3 NDUFAF8 NDUFB8 NDUFS2 NDUFS4 NDUFS8 NECTIN1 NFIX NIPBL NLRC4 NODAL NONO NPAP1 NRAS NRCAM NSD1 NUDT2 OCA2 OCRL ODC1 OFD1 OPA1 ORC1 OTUD5 PANK2 PARS2 PAX8 PCCA PCCB PCGF2 PDE10A PDE6D PDGFRA PDHA1 PDPN PDSS2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGAP2 PGAP3 PHF6 PHIP PIBF1 PIEZO2 PIGL PIGN PIGO PIGQ PIGT PIGU PIGV PIGW PIGY PLAA PLAG1 PLCH1 PLXND1 PMM2 PNPO PNPT1 POGZ POLR1B POLR3K POMT1 POMT2 POU1F1 PPP1CB PPP1R21 PPP2R1A PQBP1 PRDM16 PRDX1 PRKCSH PRKCZ PROP1 PRPS1 PRUNE1 PSAP PSAT1 PTCH1 PTPN11 PTPN23 PTS PUF60 PURA PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAF1 RAI1 RALGAPA1 RAPSN RARS2 RASA2 RERE RETREG1 REV3L RHBDF2 RIT1 RNF13 RNF2 RNF6 RPGRIP1L RPL10 RPS6KA3 RRAS RRAS2 RREB1 RTL1 RYR1 SAMHD1 SATB2 SCN1A SCN3A SCN4A SCN9A SCNN1A SCNN1B SCNN1G SCO1 SCO2 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC63 SELENON SEMA3E SEPSECS SETBP1 SH3BP2 SHH SIGMAR1 SIK1 SIM1 SIN3A SIX3 SKI SLC16A2 SLC18A3 SLC1A4 SLC25A1 SLC25A22 SLC46A1 SLC52A1 SLC5A5 SLC5A6 SLC5A7 SLC6A8 SLC9A6 SMARCB1 SMARCC2 SMARCD1 SMC1A SMC3 SMPD1 SNAP25 SNORD115-1 SNORD116-1 SNRPN SON SOS1 SOS2 SOX11 SPATA5 SPEN SPG11 SPOP SPRED2 SPTBN1 SPTBN4 SPTLC1 SRP54 ST3GAL5 STAG2 STIL SUCLA2 SUFU SURF1 SUZ12 SYNE1 SYNGAP1 SYT2 TALDO1 TANGO2 TBC1D20 TBC1D24 TBCK TBX1 TCTN1 TCTN2 TCTN3 TDGF1 TET3 TFG TG TGFB1 TGFBR2 TGIF1 TIMM22 TIMMDC1 TK2 TMEM216 TMEM218 TMEM237 TMEM67 TOGARAM1 TOP3A TOPORS TOR1A TP63 TPM2 TPM3 TPO TRAF3IP2 TRAPPC12 TRAPPC4 TREX1 TRIO TRIP4 TRMU TRNE TSEN15 TSEN2 TSEN34 TSEN54 TSFM TSHB TSHR TSPYL1 TTC21B TUBB3 TUBB6 TXN2 TXNL4A UBA1 UBB UBE3A UBE3B UBE4B UBTF UFD1 UGDH UGP2 UNC45B UNC80 UQCRC2 UQCRFS1 USP7 VAMP1 VPS13B VRK1 WASHC5 WDR19 WDR26 WFS1 WNK1 WWOX YIF1B YY1 ZIC2 ZMIZ1 ZNF699 ZNHIT3

Diseases (420) :ORPHA:2203 OMIM:201470 ORPHA:2020 OMIM:161800 OMIM:618468 OMIM:618654 ORPHA:404448 ORPHA:444077 ORPHA:98914 ORPHA:475 ORPHA:238329 ORPHA:79324 OMIM:619036 ORPHA:300605 OMIM:125800 ORPHA:199306 OMIM:614607 OMIM:135900 ORPHA:309256 ORPHA:567 OMIM:300215 OMIM:207900 ORPHA:314911 ORPHA:97297 OMIM:617190 ORPHA:352577 OMIM:618810 ORPHA:411515 OMIM:619970 OMIM:219200 ORPHA:79500 ORPHA:565 ORPHA:198 OMIM:604273 ORPHA:847 OMIM:301040 ORPHA:352490 OMIM:304800 OMIM:609465 ORPHA:709 OMIM:261540 OMIM:248600 ORPHA:2712 OMIM:124000 OMIM:255200 ORPHA:125 ORPHA:1340 OMIM:115150 OMIM:163950 OMIM:613706 ORPHA:199 OMIM:253260 OMIM:257300 ORPHA:434179 OMIM:618891 OMIM:300422 OMIM:239200 ORPHA:1606 ORPHA:648 ORPHA:1454 ORPHA:7 OMIM:619123 OMIM:618748 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 ORPHA:474 OMIM:254210 ORPHA:138 OMIM:608930 OMIM:616313 OMIM:616323 OMIM:605809 ORPHA:3463 OMIM:619173 OMIM:248250 ORPHA:1334 ORPHA:1947 ORPHA:453510 OMIM:618608 OMIM:618672 OMIM:612540 OMIM:611209 ORPHA:263487 ORPHA:1310 ORPHA:93316 OMIM:254090 ORPHA:89842 OMIM:603034 ORPHA:98915 ORPHA:255249 OMIM:619046 OMIM:619355 OMIM:619059 ORPHA:2754 OMIM:255120 OMIM:608836 OMIM:180849 ORPHA:353277 OMIM:272430 ORPHA:363611 OMIM:203400 OMIM:618910 ORPHA:314679 ORPHA:2148 OMIM:608643 ORPHA:819 OMIM:618404 OMIM:251880 OMIM:270400 ORPHA:818 ORPHA:99977 ORPHA:254534 ORPHA:96334 ORPHA:254525 OMIM:160900 ORPHA:330050 ORPHA:79322 ORPHA:1675 OMIM:222748 OMIM:614653 ORPHA:95716 ORPHA:268261 OMIM:614104 OMIM:616277 OMIM:619493 ORPHA:3447 OMIM:610536 OMIM:619376 OMIM:194050 ORPHA:1764 OMIM:223900 ORPHA:1270 OMIM:619218 ORPHA:353284 OMIM:614257 ORPHA:1493 ORPHA:90322 ORPHA:1466 ORPHA:466722 OMIM:619013 OMIM:616914 OMIM:618156 ORPHA:87 OMIM:123790 OMIM:236670 OMIM:606612 OMIM:610883 ORPHA:2308 OMIM:300048 OMIM:613670 ORPHA:308552 ORPHA:206436 ORPHA:565624 OMIM:619518 OMIM:301076 OMIM:619503 ORPHA:576 OMIM:618721 ORPHA:477673 ORPHA:96182 ORPHA:99772 OMIM:618922 OMIM:618646 ORPHA:444013 ORPHA:231140 OMIM:231530 ORPHA:71212 ORPHA:746 OMIM:300882 OMIM:176270 ORPHA:226307 OMIM:253270 OMIM:618908 ORPHA:352665 ORPHA:453504 ORPHA:3071 OMIM:218040 OMIM:261515 OMIM:612233 ORPHA:800 OMIM:617248 ORPHA:99646 OMIM:616489 OMIM:613385 ORPHA:228426 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:618974 OMIM:612292 OMIM:618846 OMIM:147920 OMIM:300867 ORPHA:261323 OMIM:201300 OMIM:615348 OMIM:617788 ORPHA:79396 OMIM:607855 ORPHA:3206 ORPHA:79243 ORPHA:2924 ORPHA:70472 OMIM:615595 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:617137 OMIM:210200 OMIM:300673 OMIM:618872 ORPHA:79329 ORPHA:2745 OMIM:251100 OMIM:251110 OMIM:277400 OMIM:252150 OMIM:606056 OMIM:618499 OMIM:610498 ORPHA:395 ORPHA:596 OMIM:250940 ORPHA:254930 OMIM:193700 ORPHA:2053 OMIM:619482 OMIM:619717 ORPHA:500545 ORPHA:371364 OMIM:620033 ORPHA:70474 OMIM:618776 OMIM:252010 OMIM:618222 ORPHA:420179 OMIM:616050 ORPHA:466791 OMIM:619833 OMIM:619844 ORPHA:98794 ORPHA:534 OMIM:619075 OMIM:300804 OMIM:616896 OMIM:224690 OMIM:301056 OMIM:234200 OMIM:618437 OMIM:218700 OMIM:606054 OMIM:618371 ORPHA:494526 ORPHA:912 OMIM:614870 OMIM:614859 OMIM:614876 OMIM:614886 OMIM:614866 OMIM:214110 OMIM:614862 OMIM:615802 ORPHA:247262 ORPHA:127 ORPHA:589905 OMIM:617146 ORPHA:280633 OMIM:618548 ORPHA:369837 OMIM:618590 OMIM:617527 OMIM:618907 ORPHA:570 OMIM:212065 OMIM:610090 ORPHA:319514 OMIM:614932 OMIM:616364 ORPHA:468678 OMIM:618939 OMIM:619310 OMIM:617506 OMIM:619383 ORPHA:457284 OMIM:309500 ORPHA:423479 ORPHA:544469 ORPHA:284417 OMIM:618890 OMIM:261640 ORPHA:508488 ORPHA:438216 ORPHA:314655 ORPHA:1387 OMIM:212720 OMIM:617751 ORPHA:500159 ORPHA:477817 OMIM:618797 OMIM:618388 OMIM:616326 OMIM:611523 ORPHA:494344 ORPHA:2198 OMIM:618379 ORPHA:544503 OMIM:619460 OMIM:300998 ORPHA:192 OMIM:618624 OMIM:255320 OMIM:612952 OMIM:612313 ORPHA:251028 ORPHA:576283 OMIM:619317 OMIM:617938 ORPHA:682 ORPHA:171876 OMIM:264350 OMIM:619048 OMIM:618766 ORPHA:3208 OMIM:619224 ORPHA:2524 ORPHA:798 ORPHA:184 ORPHA:1935 ORPHA:171829 OMIM:613406 OMIM:182212 OMIM:300523 ORPHA:59 ORPHA:447997 OMIM:618197 OMIM:229050 OMIM:615026 OMIM:618973 OMIM:617143 OMIM:300352 ORPHA:85278 OMIM:614608 OMIM:618362 OMIM:618779 OMIM:610759 OMIM:257200 OMIM:105830 ORPHA:177907 ORPHA:500150 OMIM:617140 OMIM:615866 ORPHA:457351 OMIM:618828 OMIM:618829 OMIM:619475 OMIM:617519 OMIM:618752 OMIM:609056 OMIM:612073 ORPHA:319332 ORPHA:544254 OMIM:606003 ORPHA:480864 OMIM:615663 OMIM:616900 OMIM:618798 ORPHA:90117 ORPHA:1328 OMIM:618851 OMIM:618251 ORPHA:254875 OMIM:618098 OMIM:618947 OMIM:106260 OMIM:609285 ORPHA:500144 OMIM:618741 OMIM:225750 OMIM:618825 ORPHA:476126 ORPHA:486815 OMIM:613070 ORPHA:254864 OMIM:612389 OMIM:277470 OMIM:610505 ORPHA:90674 ORPHA:90673 OMIM:608800 ORPHA:300570 OMIM:617732 ORPHA:478029 OMIM:608572 ORPHA:1145 ORPHA:411511 ORPHA:98795 OMIM:244450 ORPHA:500180 OMIM:618792 OMIM:618744 OMIM:619178 OMIM:615160 OMIM:618775 ORPHA:500055 OMIM:216550 ORPHA:193 OMIM:607596 ORPHA:513456 OMIM:619125 ORPHA:506358 OMIM:618659 OMIM:619488 OMIM:260565
 

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