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 H32655173OMIM:218040Costello syndrome113
HP:0008872HP:0008872Feeding difficulties in infancy0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
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 H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0008872HP:0008872Feeding difficulties in infancy0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
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 H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0008872HP:0008872Feeding difficulties in infancy0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
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:0008872