Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011968	HP:0011968	Feeding difficulties	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0011968	HP:0011968	Feeding difficulties	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0011968	HP:0011968	Feeding difficulties	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0011968	HP:0011968	Feeding difficulties	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0011968	HP:0011968	Feeding difficulties	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011968	HP:0011968	Feeding difficulties	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.		53
HP:0011968	HP:0011968	Feeding difficulties	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0011968	HP:0011968	Feeding difficulties	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		90
HP:0011968	HP:0011968	Feeding difficulties	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0011968	HP:0011968	Feeding difficulties	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011968	HP:0011968	Feeding difficulties	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0011968	HP:0011968	Feeding difficulties	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0011968	HP:0011968	Feeding difficulties	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0011968	HP:0011968	Feeding difficulties	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0011968	HP:0011968	Feeding difficulties	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0011968	HP:0011968	Feeding difficulties	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0011968	HP:0011968	Feeding difficulties	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0011968	HP:0011968	Feeding difficulties	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011968	HP:0011968	Feeding difficulties	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011968	HP:0011968	Feeding difficulties	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0011968	HP:0011968	Feeding difficulties	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0011968	HP:0011968	Feeding difficulties	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0011968	HP:0011968	Feeding difficulties	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0011968	HP:0011968	Feeding difficulties	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040284 - Very rare		9
HP:0011968	HP:0011968	Feeding difficulties	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0011968	HP:0011968	Feeding difficulties	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011968	HP:0011968	Feeding difficulties	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0011968	HP:0011968	Feeding difficulties	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011968	HP:0011968	Feeding difficulties	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011968	HP:0011968	Feeding difficulties	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0011968	HP:0011968	Feeding difficulties	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0011968	HP:0011968	Feeding difficulties	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040282 - Frequent		36
HP:0011968	HP:0011968	Feeding difficulties	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0011968	HP:0011968	Feeding difficulties	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		175
HP:0011968	HP:0011968	Feeding difficulties	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0011968	HP:0011968	Feeding difficulties	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0011968	HP:0011968	Feeding difficulties	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0011968	HP:0011968	Feeding difficulties	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0011968	HP:0011968	Feeding difficulties	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0011968	HP:0011968	Feeding difficulties	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0011968	HP:0011968	Feeding difficulties	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0011968	HP:0011968	Feeding difficulties	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.		41
HP:0011968	HP:0011968	Feeding difficulties	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent		68
HP:0011968	HP:0011968	Feeding difficulties	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0011968	HP:0011968	Feeding difficulties	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0011968	HP:0011968	Feeding difficulties	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0011968	HP:0011968	Feeding difficulties	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011968	HP:0011968	Feeding difficulties	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040281 - Very frequent		37
HP:0011968	HP:0011968	Feeding difficulties	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040282 - Frequent		66
HP:0011968	HP:0011968	Feeding difficulties	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0011968	HP:0011968	Feeding difficulties	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0011968	HP:0011968	Feeding difficulties	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011968	HP:0011968	Feeding difficulties	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0011968	HP:0011968	Feeding difficulties	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0011968	HP:0011968	Feeding difficulties	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0011968	HP:0011968	Feeding difficulties	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0011968	HP:0011968	Feeding difficulties	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0011968	HP:0011968	Feeding difficulties	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0011968	HP:0011968	Feeding difficulties	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent		13
HP:0011968	HP:0011968	Feeding difficulties	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0011968	HP:0011968	Feeding difficulties	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0011968	HP:0011968	Feeding difficulties	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0011968	HP:0011968	Feeding difficulties	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		75
HP:0011968	HP:0011968	Feeding difficulties	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate			6
HP:0011968	HP:0011968	Feeding difficulties	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		88
HP:0011968	HP:0011968	Feeding difficulties	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011968	HP:0011968	Feeding difficulties	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		219
HP:0011968	HP:0011968	Feeding difficulties	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0011968	HP:0011968	Feeding difficulties	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		25
HP:0011968	HP:0011968	Feeding difficulties	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0011968	HP:0011968	Feeding difficulties	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0011968	HP:0011968	Feeding difficulties	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0011968	HP:0011968	Feeding difficulties	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0011968	HP:0011968	Feeding difficulties	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0011968	HP:0011968	Feeding difficulties	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0011968	HP:0011968	Feeding difficulties	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0011968	HP:0011968	Feeding difficulties	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0011968	HP:0011968	Feeding difficulties	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0011968	HP:0011968	Feeding difficulties	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0011968	HP:0011968	Feeding difficulties	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome			49
HP:0011968	HP:0011968	Feeding difficulties	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011968	HP:0011968	Feeding difficulties	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.		5
HP:0011968	HP:0011968	Feeding difficulties	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011968	HP:0011968	Feeding difficulties	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0011968	HP:0011968	Feeding difficulties	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			4
HP:0011968	HP:0011968	Feeding difficulties	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0011968	HP:0011968	Feeding difficulties	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0011968	HP:0011968	Feeding difficulties	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011968	HP:0011968	Feeding difficulties	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0011968	HP:0011968	Feeding difficulties	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0011968	HP:0011968	Feeding difficulties	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0011968	HP:0011968	Feeding difficulties	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0011968	HP:0011968	Feeding difficulties	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0011968	HP:0011968	Feeding difficulties	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0011968	HP:0011968	Feeding difficulties	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked			67
HP:0011968	HP:0011968	Feeding difficulties	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040283 - Occasional		67
HP:0011968	HP:0011968	Feeding difficulties	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0011968	HP:0011968	Feeding difficulties	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0011968	HP:0011968	Feeding difficulties	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0011968	HP:0011968	Feeding difficulties	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0011968	HP:0011968	Feeding difficulties	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0011968	HP:0011968	Feeding difficulties	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0011968	HP:0011968	Feeding difficulties	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0011968	HP:0011968	Feeding difficulties	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0011968	HP:0011968	Feeding difficulties	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0011968	HP:0011968	Feeding difficulties	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0011968	HP:0011968	Feeding difficulties	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0011968	HP:0011968	Feeding difficulties	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0011968	HP:0011968	Feeding difficulties	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0011968	HP:0011968	Feeding difficulties	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011968	HP:0011968	Feeding difficulties	0	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate			38
HP:0011968	HP:0011968	Feeding difficulties	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0011968	HP:0011968	Feeding difficulties	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011968	HP:0011968	Feeding difficulties	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011968	HP:0011968	Feeding difficulties	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011968	HP:0011968	Feeding difficulties	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0011968	HP:0011968	Feeding difficulties	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0011968	HP:0011968	Feeding difficulties	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0011968	HP:0011968	Feeding difficulties	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0011968	HP:0011968	Feeding difficulties	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0011968	HP:0011968	Feeding difficulties	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0011968	HP:0011968	Feeding difficulties	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0011968	HP:0011968	Feeding difficulties	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0011968	HP:0011968	Feeding difficulties	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0011968	HP:0011968	Feeding difficulties	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0011968	HP:0011968	Feeding difficulties	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011968	HP:0011968	Feeding difficulties	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0011968	HP:0011968	Feeding difficulties	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0011968	HP:0011968	Feeding difficulties	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0011968	HP:0011968	Feeding difficulties	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0011968	HP:0011968	Feeding difficulties	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0011968	HP:0011968	Feeding difficulties	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0011968	HP:0011968	Feeding difficulties	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0011968	HP:0011968	Feeding difficulties	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0011968	HP:0011968	Feeding difficulties	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0011968	HP:0011968	Feeding difficulties	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0011968	HP:0011968	Feeding difficulties	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0011968	HP:0011968	Feeding difficulties	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0011968	HP:0011968	Feeding difficulties	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0011968	HP:0011968	Feeding difficulties	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011968	HP:0011968	Feeding difficulties	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		9
HP:0011968	HP:0011968	Feeding difficulties	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		31
HP:0011968	HP:0011968	Feeding difficulties	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	HP:0003593 - Infantile onset	31
HP:0011968	HP:0011968	Feeding difficulties	0	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate			1003
HP:0011968	HP:0011968	Feeding difficulties	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0011968	HP:0011968	Feeding difficulties	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011968	HP:0011968	Feeding difficulties	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		405
HP:0011968	HP:0011968	Feeding difficulties	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0011968	HP:0011968	Feeding difficulties	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011968	Feeding difficulties	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011968	Feeding difficulties	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011968	Feeding difficulties	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011968	Feeding difficulties	0	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011968	HP:0011968	Feeding difficulties	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		50
HP:0011968	HP:0011968	Feeding difficulties	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.		50
HP:0011968	HP:0011968	Feeding difficulties	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	CENPT CL E G H	80152	25787	OMIM:618702	SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0011968	HP:0011968	Feeding difficulties	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0011968	HP:0011968	Feeding difficulties	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0011968	HP:0011968	Feeding difficulties	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0011968	HP:0011968	Feeding difficulties	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		7
HP:0011968	HP:0011968	Feeding difficulties	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0011968	HP:0011968	Feeding difficulties	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		90
HP:0011968	HP:0011968	Feeding difficulties	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0011968	HP:0011968	Feeding difficulties	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0011968	HP:0011968	Feeding difficulties	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0011968	HP:0011968	Feeding difficulties	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0011968	HP:0011968	Feeding difficulties	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0011968	HP:0011968	Feeding difficulties	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0011968	HP:0011968	Feeding difficulties	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0011968	HP:0011968	Feeding difficulties	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.		53
HP:0011968	HP:0011968	Feeding difficulties	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0011968	HP:0011968	Feeding difficulties	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.		88
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0011968	HP:0011968	Feeding difficulties	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0011968	HP:0011968	Feeding difficulties	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0011968	HP:0011968	Feeding difficulties	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2			6
HP:0011968	HP:0011968	Feeding difficulties	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0011968	HP:0011968	Feeding difficulties	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0011968	HP:0011968	Feeding difficulties	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0011968	HP:0011968	Feeding difficulties	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0011968	HP:0011968	Feeding difficulties	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011968	HP:0011968	Feeding difficulties	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0011968	HP:0011968	Feeding difficulties	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0011968	HP:0011968	Feeding difficulties	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal			58
HP:0011968	HP:0011968	Feeding difficulties	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0011968	HP:0011968	Feeding difficulties	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011968	HP:0011968	Feeding difficulties	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0011968	HP:0011968	Feeding difficulties	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.		38
HP:0011968	HP:0011968	Feeding difficulties	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0011968	HP:0011968	Feeding difficulties	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0011968	HP:0011968	Feeding difficulties	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0011968	HP:0011968	Feeding difficulties	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011968	HP:0011968	Feeding difficulties	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011968	HP:0011968	Feeding difficulties	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011968	HP:0011968	Feeding difficulties	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0011968	HP:0011968	Feeding difficulties	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0011968	HP:0011968	Feeding difficulties	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011968	HP:0011968	Feeding difficulties	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0011968	HP:0011968	Feeding difficulties	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0011968	HP:0011968	Feeding difficulties	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011968	HP:0011968	Feeding difficulties	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0011968	HP:0011968	Feeding difficulties	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0011968	HP:0011968	Feeding difficulties	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0011968	HP:0011968	Feeding difficulties	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0011968	HP:0011968	Feeding difficulties	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0011968	HP:0011968	Feeding difficulties	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0011968	HP:0011968	Feeding difficulties	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011968	HP:0011968	Feeding difficulties	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011968	HP:0011968	Feeding difficulties	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0011968	HP:0011968	Feeding difficulties	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0011968	HP:0011968	Feeding difficulties	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0011968	HP:0011968	Feeding difficulties	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0011968	HP:0011968	Feeding difficulties	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0011968	HP:0011968	Feeding difficulties	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0011968	HP:0011968	Feeding difficulties	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0011968	HP:0011968	Feeding difficulties	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0011968	HP:0011968	Feeding difficulties	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0011968	HP:0011968	Feeding difficulties	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0011968	HP:0011968	Feeding difficulties	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0011968	HP:0011968	Feeding difficulties	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0011968	HP:0011968	Feeding difficulties	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011968	HP:0011968	Feeding difficulties	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0011968	HP:0011968	Feeding difficulties	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0011968	Feeding difficulties	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0011968	HP:0011968	Feeding difficulties	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011968	HP:0011968	Feeding difficulties	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0011968	HP:0011968	Feeding difficulties	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0011968	HP:0011968	Feeding difficulties	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0011968	HP:0011968	Feeding difficulties	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0011968	HP:0011968	Feeding difficulties	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0011968	HP:0011968	Feeding difficulties	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011968	HP:0011968	Feeding difficulties	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011968	HP:0011968	Feeding difficulties	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0011968	HP:0011968	Feeding difficulties	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0011968	HP:0011968	Feeding difficulties	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0011968	HP:0011968	Feeding difficulties	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0011968	HP:0011968	Feeding difficulties	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0011968	HP:0011968	Feeding difficulties	0	CTBP1 CL E G H	1487	2494	OMIM:617915	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0011968	HP:0011968	Feeding difficulties	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0011968	HP:0011968	Feeding difficulties	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0011968	HP:0011968	Feeding difficulties	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040284 - Very rare		178
HP:0011968	HP:0011968	Feeding difficulties	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0011968	HP:0011968	Feeding difficulties	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0011968	HP:0011968	Feeding difficulties	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0011968	HP:0011968	Feeding difficulties	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0011968	HP:0011968	Feeding difficulties	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency			73
HP:0011968	HP:0011968	Feeding difficulties	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent		73
HP:0011968	HP:0011968	Feeding difficulties	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011968	HP:0011968	Feeding difficulties	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0011968	HP:0011968	Feeding difficulties	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0011968	HP:0011968	Feeding difficulties	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0011968	HP:0011968	Feeding difficulties	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation			145
HP:0011968	HP:0011968	Feeding difficulties	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0011968	HP:0011968	Feeding difficulties	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0011968	HP:0011968	Feeding difficulties	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0011968	HP:0011968	Feeding difficulties	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040282 - Frequent		33
HP:0011968	HP:0011968	Feeding difficulties	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0011968	HP:0011968	Feeding difficulties	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0011968	HP:0011968	Feeding difficulties	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011968	HP:0011968	Feeding difficulties	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0011968	HP:0011968	Feeding difficulties	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040281 - Very frequent		72
HP:0011968	HP:0011968	Feeding difficulties	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0011968	HP:0011968	Feeding difficulties	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011968	HP:0011968	Feeding difficulties	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0011968	HP:0011968	Feeding difficulties	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0011968	HP:0011968	Feeding difficulties	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011968	Feeding difficulties	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011968	Feeding difficulties	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011968	Feeding difficulties	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011968	Feeding difficulties	0	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011968	HP:0011968	Feeding difficulties	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0011968	HP:0011968	Feeding difficulties	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0011968	HP:0011968	Feeding difficulties	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent		89
HP:0011968	HP:0011968	Feeding difficulties	0	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus
HP:0011968	HP:0011968	Feeding difficulties	0	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011968	HP:0011968	Feeding difficulties	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011968	HP:0011968	Feeding difficulties	0	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate			1
HP:0011968	HP:0011968	Feeding difficulties	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0011968	HP:0011968	Feeding difficulties	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0011968	HP:0011968	Feeding difficulties	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0011968	HP:0011968	Feeding difficulties	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011968	HP:0011968	Feeding difficulties	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0011968	HP:0011968	Feeding difficulties	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011968	HP:0011968	Feeding difficulties	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0011968	HP:0011968	Feeding difficulties	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011968	HP:0011968	Feeding difficulties	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011968	HP:0011968	Feeding difficulties	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0011968	HP:0011968	Feeding difficulties	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0011968	HP:0011968	Feeding difficulties	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011968	HP:0011968	Feeding difficulties	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0011968	HP:0011968	Feeding difficulties	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria			44
HP:0011968	HP:0011968	Feeding difficulties	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0011968	HP:0011968	Feeding difficulties	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0011968	HP:0011968	Feeding difficulties	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0011968	HP:0011968	Feeding difficulties	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0011968	HP:0011968	Feeding difficulties	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0011968	HP:0011968	Feeding difficulties	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0011968	HP:0011968	Feeding difficulties	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0011968	HP:0011968	Feeding difficulties	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040281 - Very frequent		134
HP:0011968	HP:0011968	Feeding difficulties	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040281 - Very frequent		134
HP:0011968	HP:0011968	Feeding difficulties	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011968	HP:0011968	Feeding difficulties	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0011968	HP:0011968	Feeding difficulties	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011968	HP:0011968	Feeding difficulties	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0011968	Feeding difficulties	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0011968	HP:0011968	Feeding difficulties	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0011968	HP:0011968	Feeding difficulties	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0011968	HP:0011968	Feeding difficulties	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011968	HP:0011968	Feeding difficulties	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0011968	HP:0011968	Feeding difficulties	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011968	HP:0011968	Feeding difficulties	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0011968	HP:0011968	Feeding difficulties	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0011968	HP:0011968	Feeding difficulties	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome			2
HP:0011968	HP:0011968	Feeding difficulties	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011968	HP:0011968	Feeding difficulties	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0011968	HP:0011968	Feeding difficulties	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011968	HP:0011968	Feeding difficulties	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011968	HP:0011968	Feeding difficulties	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0011968	HP:0011968	Feeding difficulties	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional		40
HP:0011968	HP:0011968	Feeding difficulties	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011968	HP:0011968	Feeding difficulties	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0011968	HP:0011968	Feeding difficulties	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0011968	HP:0011968	Feeding difficulties	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0011968	HP:0011968	Feeding difficulties	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0011968	HP:0011968	Feeding difficulties	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0011968	HP:0011968	Feeding difficulties	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0011968	HP:0011968	Feeding difficulties	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0011968	HP:0011968	Feeding difficulties	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0011968	HP:0011968	Feeding difficulties	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0011968	HP:0011968	Feeding difficulties	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0011968	HP:0011968	Feeding difficulties	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0011968	HP:0011968	Feeding difficulties	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0011968	HP:0011968	Feeding difficulties	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0011968	HP:0011968	Feeding difficulties	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0011968	HP:0011968	Feeding difficulties	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0011968	HP:0011968	Feeding difficulties	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0011968	HP:0011968	Feeding difficulties	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0011968	HP:0011968	Feeding difficulties	0	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0011968	HP:0011968	Feeding difficulties	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0011968	HP:0011968	Feeding difficulties	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0011968	HP:0011968	Feeding difficulties	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011968	HP:0011968	Feeding difficulties	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011968	Feeding difficulties	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011968	Feeding difficulties	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011968	Feeding difficulties	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011968	Feeding difficulties	0	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011968	HP:0011968	Feeding difficulties	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0011968	HP:0011968	Feeding difficulties	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0011968	HP:0011968	Feeding difficulties	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0011968	HP:0011968	Feeding difficulties	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011968	HP:0011968	Feeding difficulties	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0011968	HP:0011968	Feeding difficulties	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0011968	HP:0011968	Feeding difficulties	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0011968	HP:0011968	Feeding difficulties	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0011968	HP:0011968	Feeding difficulties	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011968	HP:0011968	Feeding difficulties	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0011968	HP:0011968	Feeding difficulties	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0011968	HP:0011968	Feeding difficulties	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011968	HP:0011968	Feeding difficulties	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0011968	HP:0011968	Feeding difficulties	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011968	HP:0011968	Feeding difficulties	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0011968	HP:0011968	Feeding difficulties	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011968	HP:0011968	Feeding difficulties	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		9
HP:0011968	HP:0011968	Feeding difficulties	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0011968	HP:0011968	Feeding difficulties	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0011968	HP:0011968	Feeding difficulties	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011968	HP:0011968	Feeding difficulties	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0011968	HP:0011968	Feeding difficulties	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011968	HP:0011968	Feeding difficulties	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040283 - Occasional		143
HP:0011968	HP:0011968	Feeding difficulties	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011968	HP:0011968	Feeding difficulties	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0011968	HP:0011968	Feeding difficulties	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0011968	HP:0011968	Feeding difficulties	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0011968	HP:0011968	Feeding difficulties	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0011968	HP:0011968	Feeding difficulties	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0011968	HP:0011968	Feeding difficulties	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		5
HP:0011968	HP:0011968	Feeding difficulties	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0011968	HP:0011968	Feeding difficulties	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0011968	HP:0011968	Feeding difficulties	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0011968	HP:0011968	Feeding difficulties	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0011968	HP:0011968	Feeding difficulties	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0011968	HP:0011968	Feeding difficulties	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		160
HP:0011968	HP:0011968	Feeding difficulties	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0011968	HP:0011968	Feeding difficulties	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0011968	HP:0011968	Feeding difficulties	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011968	HP:0011968	Feeding difficulties	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0011968	HP:0011968	Feeding difficulties	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011968	HP:0011968	Feeding difficulties	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0011968	HP:0011968	Feeding difficulties	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional		33
HP:0011968	HP:0011968	Feeding difficulties	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0011968	HP:0011968	Feeding difficulties	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0011968	HP:0011968	Feeding difficulties	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0011968	HP:0011968	Feeding difficulties	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0011968	HP:0011968	Feeding difficulties	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0011968	HP:0011968	Feeding difficulties	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0011968	HP:0011968	Feeding difficulties	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0011968	HP:0011968	Feeding difficulties	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011968	HP:0011968	Feeding difficulties	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0011968	HP:0011968	Feeding difficulties	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0011968	HP:0011968	Feeding difficulties	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0011968	Feeding difficulties	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0011968	Feeding difficulties	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0011968	Feeding difficulties	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0011968	Feeding difficulties	0	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011968	HP:0011968	Feeding difficulties	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011968	HP:0011968	Feeding difficulties	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040283 - Occasional		17
HP:0011968	HP:0011968	Feeding difficulties	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6			3
HP:0011968	HP:0011968	Feeding difficulties	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome	.		24
HP:0011968	HP:0011968	Feeding difficulties	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011968	HP:0011968	Feeding difficulties	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		2
HP:0011968	HP:0011968	Feeding difficulties	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0011968	HP:0011968	Feeding difficulties	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0011968	HP:0011968	Feeding difficulties	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011968	HP:0011968	Feeding difficulties	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011968	HP:0011968	Feeding difficulties	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011968	HP:0011968	Feeding difficulties	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011968	HP:0011968	Feeding difficulties	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0011968	HP:0011968	Feeding difficulties	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0011968	HP:0011968	Feeding difficulties	0	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011968	HP:0011968	Feeding difficulties	0	GRIA1 CL E G H	2890	4571	OMIM:619931				3
HP:0011968	HP:0011968	Feeding difficulties	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011968	HP:0011968	Feeding difficulties	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0011968	HP:0011968	Feeding difficulties	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011968	HP:0011968	Feeding difficulties	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive			3
HP:0011968	HP:0011968	Feeding difficulties	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0011968	HP:0011968	Feeding difficulties	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.		30
HP:0011968	HP:0011968	Feeding difficulties	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40			2
HP:0011968	HP:0011968	Feeding difficulties	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			4
HP:0011968	HP:0011968	Feeding difficulties	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0011968	HP:0011968	Feeding difficulties	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011968	HP:0011968	Feeding difficulties	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011968	HP:0011968	Feeding difficulties	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0011968	HP:0011968	Feeding difficulties	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0011968	HP:0011968	Feeding difficulties	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4			41
HP:0011968	HP:0011968	Feeding difficulties	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0011968	HP:0011968	Feeding difficulties	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0011968	HP:0011968	Feeding difficulties	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0011968	HP:0011968	Feeding difficulties	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0011968	HP:0011968	Feeding difficulties	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0011968	HP:0011968	Feeding difficulties	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0011968	HP:0011968	Feeding difficulties	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0011968	HP:0011968	Feeding difficulties	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0011968	HP:0011968	Feeding difficulties	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0011968	HP:0011968	Feeding difficulties	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0011968	HP:0011968	Feeding difficulties	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0011968	HP:0011968	Feeding difficulties	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0011968	HP:0011968	Feeding difficulties	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011968	HP:0011968	Feeding difficulties	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011968	HP:0011968	Feeding difficulties	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011968	HP:0011968	Feeding difficulties	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0011968	HP:0011968	Feeding difficulties	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0011968	HP:0011968	Feeding difficulties	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0011968	HP:0011968	Feeding difficulties	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.		13
HP:0011968	HP:0011968	Feeding difficulties	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0011968	HP:0011968	Feeding difficulties	0	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency			148
HP:0011968	HP:0011968	Feeding difficulties	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0011968	HP:0011968	Feeding difficulties	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0011968	HP:0011968	Feeding difficulties	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0011968	HP:0011968	Feeding difficulties	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0011968	HP:0011968	Feeding difficulties	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0011968	HP:0011968	Feeding difficulties	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0011968	HP:0011968	Feeding difficulties	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011968	HP:0011968	Feeding difficulties	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011968	HP:0011968	Feeding difficulties	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0011968	HP:0011968	Feeding difficulties	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0011968	HP:0011968	Feeding difficulties	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0011968	HP:0011968	Feeding difficulties	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0011968	HP:0011968	Feeding difficulties	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0011968	HP:0011968	Feeding difficulties	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0011968	HP:0011968	Feeding difficulties	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0011968	HP:0011968	Feeding difficulties	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0011968	HP:0011968	Feeding difficulties	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0011968	HP:0011968	Feeding difficulties	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0011968	HP:0011968	Feeding difficulties	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011968	HP:0011968	Feeding difficulties	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0011968	HP:0011968	Feeding difficulties	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0011968	HP:0011968	Feeding difficulties	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.		28
HP:0011968	HP:0011968	Feeding difficulties	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0011968	HP:0011968	Feeding difficulties	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0011968	HP:0011968	Feeding difficulties	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0011968	HP:0011968	Feeding difficulties	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies			9
HP:0011968	HP:0011968	Feeding difficulties	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0011968	HP:0011968	Feeding difficulties	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15			9
HP:0011968	HP:0011968	Feeding difficulties	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0011968	HP:0011968	Feeding difficulties	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0011968	HP:0011968	Feeding difficulties	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011968	HP:0011968	Feeding difficulties	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0011968	HP:0011968	Feeding difficulties	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0011968	HP:0011968	Feeding difficulties	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		111
HP:0011968	HP:0011968	Feeding difficulties	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0011968	HP:0011968	Feeding difficulties	0	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate			99
HP:0011968	HP:0011968	Feeding difficulties	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0011968	HP:0011968	Feeding difficulties	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0011968	HP:0011968	Feeding difficulties	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0011968	HP:0011968	Feeding difficulties	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0011968	HP:0011968	Feeding difficulties	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0011968	HP:0011968	Feeding difficulties	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0011968	HP:0011968	Feeding difficulties	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0011968	HP:0011968	Feeding difficulties	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011968	HP:0011968	Feeding difficulties	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0011968	HP:0011968	Feeding difficulties	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0011968	HP:0011968	Feeding difficulties	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0011968	HP:0011968	Feeding difficulties	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011968	HP:0011968	Feeding difficulties	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		10
HP:0011968	HP:0011968	Feeding difficulties	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0011968	HP:0011968	Feeding difficulties	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0011968	HP:0011968	Feeding difficulties	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0011968	HP:0011968	Feeding difficulties	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0011968	HP:0011968	Feeding difficulties	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0011968	HP:0011968	Feeding difficulties	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0011968	HP:0011968	Feeding difficulties	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011968	HP:0011968	Feeding difficulties	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040282 - Frequent		528
HP:0011968	HP:0011968	Feeding difficulties	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011968	HP:0011968	Feeding difficulties	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0011968	HP:0011968	Feeding difficulties	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011968	HP:0011968	Feeding difficulties	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.	HP:0003623 - Neonatal onset	2
HP:0011968	HP:0011968	Feeding difficulties	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0011968	HP:0011968	Feeding difficulties	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0011968	HP:0011968	Feeding difficulties	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011968	HP:0011968	Feeding difficulties	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0011968	HP:0011968	Feeding difficulties	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0011968	HP:0011968	Feeding difficulties	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6			4
HP:0011968	HP:0011968	Feeding difficulties	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011968	HP:0011968	Feeding difficulties	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0011968	HP:0011968	Feeding difficulties	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0011968	HP:0011968	Feeding difficulties	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0011968	HP:0011968	Feeding difficulties	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6			167
HP:0011968	HP:0011968	Feeding difficulties	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0011968	HP:0011968	Feeding difficulties	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0011968	HP:0011968	Feeding difficulties	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0011968	HP:0011968	Feeding difficulties	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.		42
HP:0011968	HP:0011968	Feeding difficulties	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0011968	HP:0011968	Feeding difficulties	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0011968	HP:0011968	Feeding difficulties	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0011968	HP:0011968	Feeding difficulties	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0011968	HP:0011968	Feeding difficulties	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011968	HP:0011968	Feeding difficulties	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011968	HP:0011968	Feeding difficulties	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0011968	HP:0011968	Feeding difficulties	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0011968	HP:0011968	Feeding difficulties	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0011968	HP:0011968	Feeding difficulties	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011968	HP:0011968	Feeding difficulties	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		27
HP:0011968	HP:0011968	Feeding difficulties	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		23
HP:0011968	HP:0011968	Feeding difficulties	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011968	HP:0011968	Feeding difficulties	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		41
HP:0011968	HP:0011968	Feeding difficulties	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040283 - Occasional		4
HP:0011968	HP:0011968	Feeding difficulties	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0011968	HP:0011968	Feeding difficulties	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0011968	HP:0011968	Feeding difficulties	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0011968	HP:0011968	Feeding difficulties	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0011968	HP:0011968	Feeding difficulties	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0011968	HP:0011968	Feeding difficulties	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011968	HP:0011968	Feeding difficulties	0	LBX1 CL E G H	10660	16960	OMIM:619483	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3
HP:0011968	HP:0011968	Feeding difficulties	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0011968	HP:0011968	Feeding difficulties	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0011968	HP:0011968	Feeding difficulties	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0011968	HP:0011968	Feeding difficulties	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0011968	HP:0011968	Feeding difficulties	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0011968	HP:0011968	Feeding difficulties	0	LINGO1 CL E G H	84894	21205	OMIM:618103	Mental retardation, autosomal recessive 64	.
HP:0011968	HP:0011968	Feeding difficulties	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0011968	HP:0011968	Feeding difficulties	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0011968	HP:0011968	Feeding difficulties	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040282 - Frequent		645
HP:0011968	HP:0011968	Feeding difficulties	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0011968	HP:0011968	Feeding difficulties	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0011968	HP:0011968	Feeding difficulties	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0011968	HP:0011968	Feeding difficulties	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0011968	HP:0011968	Feeding difficulties	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.		124
HP:0011968	HP:0011968	Feeding difficulties	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0011968	HP:0011968	Feeding difficulties	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011968	HP:0011968	Feeding difficulties	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0011968	HP:0011968	Feeding difficulties	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0011968	HP:0011968	Feeding difficulties	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0011968	HP:0011968	Feeding difficulties	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0011968	HP:0011968	Feeding difficulties	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0011968	HP:0011968	Feeding difficulties	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011968	HP:0011968	Feeding difficulties	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0011968	HP:0011968	Feeding difficulties	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0011968	HP:0011968	Feeding difficulties	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0011968	HP:0011968	Feeding difficulties	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.		25
HP:0011968	HP:0011968	Feeding difficulties	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0011968	HP:0011968	Feeding difficulties	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040282 - Frequent		22
HP:0011968	HP:0011968	Feeding difficulties	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0011968	HP:0011968	Feeding difficulties	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0011968	HP:0011968	Feeding difficulties	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		950
HP:0011968	HP:0011968	Feeding difficulties	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0011968	HP:0011968	Feeding difficulties	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0011968	HP:0011968	Feeding difficulties	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0011968	HP:0011968	Feeding difficulties	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0011968	HP:0011968	Feeding difficulties	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0011968	HP:0011968	Feeding difficulties	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0011968	HP:0011968	Feeding difficulties	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011968	HP:0011968	Feeding difficulties	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0011968	HP:0011968	Feeding difficulties	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0011968	HP:0011968	Feeding difficulties	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011968	HP:0011968	Feeding difficulties	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional		132
HP:0011968	HP:0011968	Feeding difficulties	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion			1
HP:0011968	HP:0011968	Feeding difficulties	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0011968	HP:0011968	Feeding difficulties	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0011968	HP:0011968	Feeding difficulties	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0011968	HP:0011968	Feeding difficulties	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0011968	HP:0011968	Feeding difficulties	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0011968	HP:0011968	Feeding difficulties	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011968	HP:0011968	Feeding difficulties	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0011968	HP:0011968	Feeding difficulties	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040282 - Frequent		127
HP:0011968	HP:0011968	Feeding difficulties	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0011968	HP:0011968	Feeding difficulties	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0011968	HP:0011968	Feeding difficulties	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0011968	HP:0011968	Feeding difficulties	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0011968	HP:0011968	Feeding difficulties	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0011968	HP:0011968	Feeding difficulties	0	MN1 CL E G H	4330	7180	OMIM:618774	CEBALID SYNDROME; CEBALID			1
HP:0011968	HP:0011968	Feeding difficulties	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0011968	HP:0011968	Feeding difficulties	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0011968	HP:0011968	Feeding difficulties	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0011968	HP:0011968	Feeding difficulties	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011968	HP:0011968	Feeding difficulties	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	HP:0040283 - Occasional		32
HP:0011968	HP:0011968	Feeding difficulties	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011968	HP:0011968	Feeding difficulties	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011968	HP:0011968	Feeding difficulties	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0011968	HP:0011968	Feeding difficulties	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0011968	HP:0011968	Feeding difficulties	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011968	HP:0011968	Feeding difficulties	0	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate			12
HP:0011968	HP:0011968	Feeding difficulties	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0011968	HP:0011968	Feeding difficulties	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0011968	HP:0011968	Feeding difficulties	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0011968	HP:0011968	Feeding difficulties	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0011968	HP:0011968	Feeding difficulties	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040283 - Occasional		185
HP:0011968	HP:0011968	Feeding difficulties	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0011968	HP:0011968	Feeding difficulties	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0011968	HP:0011968	Feeding difficulties	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0011968	HP:0011968	Feeding difficulties	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0011968	HP:0011968	Feeding difficulties	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040282 - Frequent		88
HP:0011968	HP:0011968	Feeding difficulties	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0011968	HP:0011968	Feeding difficulties	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0011968	HP:0011968	Feeding difficulties	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0011968	HP:0011968	Feeding difficulties	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.		93
HP:0011968	HP:0011968	Feeding difficulties	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0011968	HP:0011968	Feeding difficulties	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0011968	HP:0011968	Feeding difficulties	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0011968	HP:0011968	Feeding difficulties	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011968	HP:0011968	Feeding difficulties	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0011968	HP:0011968	Feeding difficulties	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0011968	HP:0011968	Feeding difficulties	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011968	HP:0011968	Feeding difficulties	0	NAA15 CL E G H	80155	30782	OMIM:617787	MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50			1
HP:0011968	HP:0011968	Feeding difficulties	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011968	HP:0011968	Feeding difficulties	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0011968	HP:0011968	Feeding difficulties	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040283 - Occasional		36
HP:0011968	HP:0011968	Feeding difficulties	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0011968	HP:0011968	Feeding difficulties	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0011968	HP:0011968	Feeding difficulties	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0011968	HP:0011968	Feeding difficulties	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0011968	HP:0011968	Feeding difficulties	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0011968	HP:0011968	Feeding difficulties	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		96
HP:0011968	HP:0011968	Feeding difficulties	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0011968	HP:0011968	Feeding difficulties	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0011968	HP:0011968	Feeding difficulties	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011968	HP:0011968	Feeding difficulties	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF2 CL E G H	91942	28086	OMIM:618233	Mitochondrial complex I deficiency, nuclear type 10	.		26
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS6 CL E G H	4726	7713	OMIM:618232	Mitochondrial complex I deficiency, nuclear type 9	.		21
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0011968	HP:0011968	Feeding difficulties	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0011968	HP:0011968	Feeding difficulties	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0011968	HP:0011968	Feeding difficulties	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0011968	HP:0011968	Feeding difficulties	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0011968	HP:0011968	Feeding difficulties	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate			4
HP:0011968	HP:0011968	Feeding difficulties	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0011968	HP:0011968	Feeding difficulties	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0011968	HP:0011968	Feeding difficulties	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0011968	HP:0011968	Feeding difficulties	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0011968	HP:0011968	Feeding difficulties	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome			40
HP:0011968	HP:0011968	Feeding difficulties	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0011968	HP:0011968	Feeding difficulties	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0011968	HP:0011968	Feeding difficulties	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011968	HP:0011968	Feeding difficulties	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0011968	HP:0011968	Feeding difficulties	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0011968	HP:0011968	Feeding difficulties	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		51
HP:0011968	HP:0011968	Feeding difficulties	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		90
HP:0011968	HP:0011968	Feeding difficulties	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0011968	HP:0011968	Feeding difficulties	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011968	Feeding difficulties	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011968	Feeding difficulties	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011968	Feeding difficulties	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011968	Feeding difficulties	0	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011968	HP:0011968	Feeding difficulties	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0011968	HP:0011968	Feeding difficulties	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0011968	HP:0011968	Feeding difficulties	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		85
HP:0011968	HP:0011968	Feeding difficulties	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0011968	HP:0011968	Feeding difficulties	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.		109
HP:0011968	HP:0011968	Feeding difficulties	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0011968	HP:0011968	Feeding difficulties	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0011968	HP:0011968	Feeding difficulties	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0011968	HP:0011968	Feeding difficulties	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011968	HP:0011968	Feeding difficulties	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	.		470
HP:0011968	HP:0011968	Feeding difficulties	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0011968	HP:0011968	Feeding difficulties	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0011968	HP:0011968	Feeding difficulties	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0011968	HP:0011968	Feeding difficulties	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0011968	HP:0011968	Feeding difficulties	0	NSMCE3 CL E G H	56160	7677	OMIM:617241	LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS			2
HP:0011968	HP:0011968	Feeding difficulties	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional		97
HP:0011968	HP:0011968	Feeding difficulties	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0011968	HP:0011968	Feeding difficulties	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0011968	HP:0011968	Feeding difficulties	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0011968	HP:0011968	Feeding difficulties	0	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011968	HP:0011968	Feeding difficulties	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0011968	HP:0011968	Feeding difficulties	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0011968	HP:0011968	Feeding difficulties	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0011968	HP:0011968	Feeding difficulties	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0011968	HP:0011968	Feeding difficulties	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0011968	HP:0011968	Feeding difficulties	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011968	HP:0011968	Feeding difficulties	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011968	HP:0011968	Feeding difficulties	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6			201
HP:0011968	HP:0011968	Feeding difficulties	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0011968	HP:0011968	Feeding difficulties	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0011968	HP:0011968	Feeding difficulties	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		53
HP:0011968	HP:0011968	Feeding difficulties	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0011968	HP:0011968	Feeding difficulties	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		21
HP:0011968	HP:0011968	Feeding difficulties	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	HP:0003593 - Infantile onset	21
HP:0011968	HP:0011968	Feeding difficulties	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent		39
HP:0011968	HP:0011968	Feeding difficulties	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0011968	HP:0011968	Feeding difficulties	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011968	HP:0011968	Feeding difficulties	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0011968	HP:0011968	Feeding difficulties	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6			41
HP:0011968	HP:0011968	Feeding difficulties	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011968	HP:0011968	Feeding difficulties	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0011968	HP:0011968	Feeding difficulties	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0011968	HP:0011968	Feeding difficulties	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0011968	HP:0011968	Feeding difficulties	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011968	HP:0011968	Feeding difficulties	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0011968	HP:0011968	Feeding difficulties	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0011968	HP:0011968	Feeding difficulties	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		63
HP:0011968	HP:0011968	Feeding difficulties	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2			63
HP:0011968	HP:0011968	Feeding difficulties	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0011968	HP:0011968	Feeding difficulties	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0011968	HP:0011968	Feeding difficulties	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0011968	HP:0011968	Feeding difficulties	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	HP:0040283 - Occasional		5
HP:0011968	HP:0011968	Feeding difficulties	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent		5
HP:0011968	HP:0011968	Feeding difficulties	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6			1
HP:0011968	HP:0011968	Feeding difficulties	0	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate			337
HP:0011968	HP:0011968	Feeding difficulties	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0011968	HP:0011968	Feeding difficulties	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0011968	HP:0011968	Feeding difficulties	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0011968	HP:0011968	Feeding difficulties	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0011968	HP:0011968	Feeding difficulties	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0011968	HP:0011968	Feeding difficulties	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0011968	HP:0011968	Feeding difficulties	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0011968	HP:0011968	Feeding difficulties	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0011968	HP:0011968	Feeding difficulties	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0011968	HP:0011968	Feeding difficulties	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0011968	HP:0011968	Feeding difficulties	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0011968	HP:0011968	Feeding difficulties	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0011968	HP:0011968	Feeding difficulties	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0011968	HP:0011968	Feeding difficulties	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0011968	HP:0011968	Feeding difficulties	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0011968	HP:0011968	Feeding difficulties	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0011968	HP:0011968	Feeding difficulties	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011968	HP:0011968	Feeding difficulties	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0011968	HP:0011968	Feeding difficulties	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0011968	HP:0011968	Feeding difficulties	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0011968	HP:0011968	Feeding difficulties	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0011968	HP:0011968	Feeding difficulties	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0011968	HP:0011968	Feeding difficulties	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0011968	HP:0011968	Feeding difficulties	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0011968	HP:0011968	Feeding difficulties	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0011968	HP:0011968	Feeding difficulties	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0011968	HP:0011968	Feeding difficulties	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0011968	HP:0011968	Feeding difficulties	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0011968	HP:0011968	Feeding difficulties	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011968	HP:0011968	Feeding difficulties	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011968	HP:0011968	Feeding difficulties	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome			29
HP:0011968	HP:0011968	Feeding difficulties	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040282 - Frequent		37
HP:0011968	HP:0011968	Feeding difficulties	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011968	HP:0011968	Feeding difficulties	0	PHOX2B CL E G H	8929	9143	OMIM:209880	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	.		86
HP:0011968	HP:0011968	Feeding difficulties	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0011968	HP:0011968	Feeding difficulties	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0011968	HP:0011968	Feeding difficulties	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent		77
HP:0011968	HP:0011968	Feeding difficulties	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011968	HP:0011968	Feeding difficulties	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0011968	HP:0011968	Feeding difficulties	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011968	HP:0011968	Feeding difficulties	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0011968	HP:0011968	Feeding difficulties	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011968	HP:0011968	Feeding difficulties	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0011968	HP:0011968	Feeding difficulties	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0011968	HP:0011968	Feeding difficulties	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0011968	HP:0011968	Feeding difficulties	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011968	HP:0011968	Feeding difficulties	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011968	HP:0011968	Feeding difficulties	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	HP:0040283 - Occasional		57
HP:0011968	HP:0011968	Feeding difficulties	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011968	HP:0011968	Feeding difficulties	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011968	HP:0011968	Feeding difficulties	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011968	HP:0011968	Feeding difficulties	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011968	HP:0011968	Feeding difficulties	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0011968	HP:0011968	Feeding difficulties	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0011968	HP:0011968	Feeding difficulties	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011968	HP:0011968	Feeding difficulties	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0011968	HP:0011968	Feeding difficulties	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0011968	HP:0011968	Feeding difficulties	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040283 - Occasional		82
HP:0011968	HP:0011968	Feeding difficulties	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011968	HP:0011968	Feeding difficulties	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0011968	HP:0011968	Feeding difficulties	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0011968	HP:0011968	Feeding difficulties	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0011968	HP:0011968	Feeding difficulties	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0011968	HP:0011968	Feeding difficulties	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0011968	HP:0011968	Feeding difficulties	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0011968	HP:0011968	Feeding difficulties	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0011968	HP:0011968	Feeding difficulties	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011968	HP:0011968	Feeding difficulties	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0011968	HP:0011968	Feeding difficulties	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0011968	HP:0011968	Feeding difficulties	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.		1129
HP:0011968	HP:0011968	Feeding difficulties	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0011968	HP:0011968	Feeding difficulties	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011968	HP:0011968	Feeding difficulties	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0011968	HP:0011968	Feeding difficulties	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0011968	HP:0011968	Feeding difficulties	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0011968	HP:0011968	Feeding difficulties	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011968	HP:0011968	Feeding difficulties	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0011968	HP:0011968	Feeding difficulties	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0011968	HP:0011968	Feeding difficulties	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011968	HP:0011968	Feeding difficulties	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0011968	HP:0011968	Feeding difficulties	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011968	HP:0011968	Feeding difficulties	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0011968	HP:0011968	Feeding difficulties	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0011968	HP:0011968	Feeding difficulties	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0011968	HP:0011968	Feeding difficulties	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0011968	HP:0011968	Feeding difficulties	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011968	HP:0011968	Feeding difficulties	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011968	HP:0011968	Feeding difficulties	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011968	HP:0011968	Feeding difficulties	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0011968	HP:0011968	Feeding difficulties	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011968	HP:0011968	Feeding difficulties	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0011968	HP:0011968	Feeding difficulties	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0011968	HP:0011968	Feeding difficulties	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0011968	HP:0011968	Feeding difficulties	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0011968	HP:0011968	Feeding difficulties	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PRKD1 CL E G H	5587	9407	OMIM:617364	Congenital heart defects and ectodermal dysplasia	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0011968	HP:0011968	Feeding difficulties	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0011968	Feeding difficulties	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0011968	HP:0011968	Feeding difficulties	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0011968	HP:0011968	Feeding difficulties	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0011968	HP:0011968	Feeding difficulties	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0011968	HP:0011968	Feeding difficulties	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent		81
HP:0011968	HP:0011968	Feeding difficulties	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0011968	HP:0011968	Feeding difficulties	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0011968	HP:0011968	Feeding difficulties	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0011968	HP:0011968	Feeding difficulties	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0011968	HP:0011968	Feeding difficulties	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011968	HP:0011968	Feeding difficulties	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040282 - Frequent		54
HP:0011968	HP:0011968	Feeding difficulties	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011968	Feeding difficulties	0	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011968	HP:0011968	Feeding difficulties	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0011968	HP:0011968	Feeding difficulties	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011968	HP:0011968	Feeding difficulties	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0011968	HP:0011968	Feeding difficulties	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011968	HP:0011968	Feeding difficulties	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011968	HP:0011968	Feeding difficulties	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0011968	HP:0011968	Feeding difficulties	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0011968	HP:0011968	Feeding difficulties	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0011968	HP:0011968	Feeding difficulties	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0011968	HP:0011968	Feeding difficulties	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0011968	HP:0011968	Feeding difficulties	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent		11
HP:0011968	HP:0011968	Feeding difficulties	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011968	HP:0011968	Feeding difficulties	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0011968	HP:0011968	Feeding difficulties	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0011968	HP:0011968	Feeding difficulties	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0011968	HP:0011968	Feeding difficulties	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0011968	HP:0011968	Feeding difficulties	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011968	HP:0011968	Feeding difficulties	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0011968	HP:0011968	Feeding difficulties	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0011968	HP:0011968	Feeding difficulties	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0011968	HP:0011968	Feeding difficulties	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0011968	HP:0011968	Feeding difficulties	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0011968	HP:0011968	Feeding difficulties	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011968	HP:0011968	Feeding difficulties	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0011968	HP:0011968	Feeding difficulties	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0011968	HP:0011968	Feeding difficulties	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0011968	HP:0011968	Feeding difficulties	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0011968	HP:0011968	Feeding difficulties	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011968	HP:0011968	Feeding difficulties	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent		334
HP:0011968	HP:0011968	Feeding difficulties	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0011968	HP:0011968	Feeding difficulties	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0011968	HP:0011968	Feeding difficulties	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0011968	HP:0011968	Feeding difficulties	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0011968	HP:0011968	Feeding difficulties	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0011968	HP:0011968	Feeding difficulties	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0011968	HP:0011968	Feeding difficulties	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0011968	HP:0011968	Feeding difficulties	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0011968	HP:0011968	Feeding difficulties	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0011968	HP:0011968	Feeding difficulties	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0011968	HP:0011968	Feeding difficulties	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0011968	HP:0011968	Feeding difficulties	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0011968	HP:0011968	Feeding difficulties	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011968	HP:0011968	Feeding difficulties	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011968	HP:0011968	Feeding difficulties	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011968	HP:0011968	Feeding difficulties	0	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus			3
HP:0011968	HP:0011968	Feeding difficulties	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0011968	HP:0011968	Feeding difficulties	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0011968	HP:0011968	Feeding difficulties	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0011968	HP:0011968	Feeding difficulties	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		167
HP:0011968	HP:0011968	Feeding difficulties	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011968	HP:0011968	Feeding difficulties	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0011968	HP:0011968	Feeding difficulties	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011968	HP:0011968	Feeding difficulties	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0011968	HP:0011968	Feeding difficulties	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)	.		125
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040282 - Frequent
HP:0011968	HP:0011968	Feeding difficulties	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion
HP:0011968	HP:0011968	Feeding difficulties	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0011968	HP:0011968	Feeding difficulties	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0011968	HP:0011968	Feeding difficulties	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0011968	HP:0011968	Feeding difficulties	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0011968	HP:0011968	Feeding difficulties	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0011968	HP:0011968	Feeding difficulties	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0011968	HP:0011968	Feeding difficulties	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0011968	HP:0011968	Feeding difficulties	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040282 - Frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011968	HP:0011968	Feeding difficulties	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011968	HP:0011968	Feeding difficulties	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0011968	HP:0011968	Feeding difficulties	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011968	HP:0011968	Feeding difficulties	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011968	HP:0011968	Feeding difficulties	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0011968	HP:0011968	Feeding difficulties	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0011968	HP:0011968	Feeding difficulties	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0011968	HP:0011968	Feeding difficulties	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.	HP:0011463 - Childhood onset	263
HP:0011968	HP:0011968	Feeding difficulties	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0011968	HP:0011968	Feeding difficulties	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0011968	HP:0011968	Feeding difficulties	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0011968	HP:0011968	Feeding difficulties	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive			67
HP:0011968	HP:0011968	Feeding difficulties	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0011968	HP:0011968	Feeding difficulties	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0011968	HP:0011968	Feeding difficulties	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0011968	HP:0011968	Feeding difficulties	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0011968	HP:0011968	Feeding difficulties	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011968	HP:0011968	Feeding difficulties	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0011968	HP:0011968	Feeding difficulties	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0011968	HP:0011968	Feeding difficulties	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0011968	HP:0011968	Feeding difficulties	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0011968	HP:0011968	Feeding difficulties	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0011968	HP:0011968	Feeding difficulties	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0011968	HP:0011968	Feeding difficulties	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0011968	HP:0011968	Feeding difficulties	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0011968	HP:0011968	Feeding difficulties	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0011968	HP:0011968	Feeding difficulties	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0011968	HP:0011968	Feeding difficulties	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0011968	HP:0011968	Feeding difficulties	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		66
HP:0011968	HP:0011968	Feeding difficulties	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.		47
HP:0011968	HP:0011968	Feeding difficulties	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0011968	HP:0011968	Feeding difficulties	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011968	HP:0011968	Feeding difficulties	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0011968	HP:0011968	Feeding difficulties	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0011968	HP:0011968	Feeding difficulties	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0011968	HP:0011968	Feeding difficulties	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0011968	HP:0011968	Feeding difficulties	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0011968	HP:0011968	Feeding difficulties	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent		53
HP:0011968	HP:0011968	Feeding difficulties	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0011968	HP:0011968	Feeding difficulties	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011968	Feeding difficulties	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011968	Feeding difficulties	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011968	Feeding difficulties	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011968	Feeding difficulties	0	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011968	HP:0011968	Feeding difficulties	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0011968	HP:0011968	Feeding difficulties	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0011968	HP:0011968	Feeding difficulties	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0011968	HP:0011968	Feeding difficulties	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0011968	HP:0011968	Feeding difficulties	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0011968	HP:0011968	Feeding difficulties	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0011968	HP:0011968	Feeding difficulties	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011968	HP:0011968	Feeding difficulties	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011968	HP:0011968	Feeding difficulties	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0011968	HP:0011968	Feeding difficulties	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011968	HP:0011968	Feeding difficulties	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0011968	Feeding difficulties	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0011968	HP:0011968	Feeding difficulties	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0011968	HP:0011968	Feeding difficulties	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0011968	HP:0011968	Feeding difficulties	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0011968	HP:0011968	Feeding difficulties	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0011968	HP:0011968	Feeding difficulties	0	SLC16A1 CL E G H	6566	10922	OMIM:616095	Monocarboxylate transporter 1 deficiency	.		74
HP:0011968	HP:0011968	Feeding difficulties	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0011968	HP:0011968	Feeding difficulties	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0011968	HP:0011968	Feeding difficulties	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0011968	HP:0011968	Feeding difficulties	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.		28
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent		36
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011968	HP:0011968	Feeding difficulties	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0011968	HP:0011968	Feeding difficulties	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		274
HP:0011968	HP:0011968	Feeding difficulties	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0011968	HP:0011968	Feeding difficulties	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary			101
HP:0011968	HP:0011968	Feeding difficulties	0	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0011968	HP:0011968	Feeding difficulties	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0011968	HP:0011968	Feeding difficulties	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0011968	HP:0011968	Feeding difficulties	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0011968	HP:0011968	Feeding difficulties	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0011968	HP:0011968	Feeding difficulties	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent		13
HP:0011968	HP:0011968	Feeding difficulties	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.		13
HP:0011968	HP:0011968	Feeding difficulties	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked			122
HP:0011968	HP:0011968	Feeding difficulties	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0011968	HP:0011968	Feeding difficulties	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome			93
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		617
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		87
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		47
HP:0011968	HP:0011968	Feeding difficulties	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0011968	HP:0011968	Feeding difficulties	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent		135
HP:0011968	HP:0011968	Feeding difficulties	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0011968	HP:0011968	Feeding difficulties	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		135
HP:0011968	HP:0011968	Feeding difficulties	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0011968	HP:0011968	Feeding difficulties	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011968	HP:0011968	Feeding difficulties	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0011968	HP:0011968	Feeding difficulties	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	HP:0003623 - Neonatal onset	3
HP:0011968	HP:0011968	Feeding difficulties	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent		6
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011968	HP:0011968	Feeding difficulties	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011968	HP:0011968	Feeding difficulties	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011968	HP:0011968	Feeding difficulties	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0011968	HP:0011968	Feeding difficulties	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0011968	HP:0011968	Feeding difficulties	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent		14
HP:0011968	HP:0011968	Feeding difficulties	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011968	HP:0011968	Feeding difficulties	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0011968	HP:0011968	Feeding difficulties	0	SOX5 CL E G H	6660	11201	ORPHA:313892	Developmental and speech delay due to SOX5 deficiency	HP:0040283 - Occasional		11
HP:0011968	HP:0011968	Feeding difficulties	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0011968	HP:0011968	Feeding difficulties	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0011968	HP:0011968	Feeding difficulties	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011968	HP:0011968	Feeding difficulties	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0011968	HP:0011968	Feeding difficulties	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0011968	HP:0011968	Feeding difficulties	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011968	HP:0011968	Feeding difficulties	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011968	HP:0011968	Feeding difficulties	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011968	HP:0011968	Feeding difficulties	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011968	HP:0011968	Feeding difficulties	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0011968	HP:0011968	Feeding difficulties	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011968	HP:0011968	Feeding difficulties	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011968	HP:0011968	Feeding difficulties	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0011968	HP:0011968	Feeding difficulties	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy			12
HP:0011968	HP:0011968	Feeding difficulties	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0011968	HP:0011968	Feeding difficulties	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0011968	HP:0011968	Feeding difficulties	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0011968	HP:0011968	Feeding difficulties	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040282 - Frequent		14
HP:0011968	HP:0011968	Feeding difficulties	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47	.		9
HP:0011968	HP:0011968	Feeding difficulties	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040282 - Frequent		9
HP:0011968	HP:0011968	Feeding difficulties	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011968	Feeding difficulties	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011968	Feeding difficulties	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011968	Feeding difficulties	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011968	Feeding difficulties	0	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011968	HP:0011968	Feeding difficulties	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.		6
HP:0011968	HP:0011968	Feeding difficulties	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0011968	Feeding difficulties	0	STT3A CL E G H	3703	6172	OMIM:615596	Congenital disorder of glycosylation, type Iw	.		21
HP:0011968	HP:0011968	Feeding difficulties	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040280 - Obligate		21
HP:0011968	HP:0011968	Feeding difficulties	0	STT3B CL E G H	201595	30611	OMIM:615597	Congenital disorder of glycosylation, type Ix	.		18
HP:0011968	HP:0011968	Feeding difficulties	0	STT3B CL E G H	201595	30611	ORPHA:370924	STT3B-CDG	HP:0040280 - Obligate		18
HP:0011968	HP:0011968	Feeding difficulties	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0011968	HP:0011968	Feeding difficulties	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0011968	HP:0011968	Feeding difficulties	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0011968	HP:0011968	Feeding difficulties	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0011968	HP:0011968	Feeding difficulties	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0011968	HP:0011968	Feeding difficulties	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011968	HP:0011968	Feeding difficulties	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011968	HP:0011968	Feeding difficulties	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011968	HP:0011968	Feeding difficulties	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0011968	HP:0011968	Feeding difficulties	0	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy			108
HP:0011968	HP:0011968	Feeding difficulties	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0011968	HP:0011968	Feeding difficulties	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0011968	HP:0011968	Feeding difficulties	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0011968	HP:0011968	Feeding difficulties	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011968	HP:0011968	Feeding difficulties	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0011968	HP:0011968	Feeding difficulties	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0011968	HP:0011968	Feeding difficulties	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011968	HP:0011968	Feeding difficulties	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011968	HP:0011968	Feeding difficulties	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0011968	HP:0011968	Feeding difficulties	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent		271
HP:0011968	HP:0011968	Feeding difficulties	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0011968	HP:0011968	Feeding difficulties	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0011968	HP:0011968	Feeding difficulties	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011968	HP:0011968	Feeding difficulties	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0011968	HP:0011968	Feeding difficulties	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0011968	HP:0011968	Feeding difficulties	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0011968	HP:0011968	Feeding difficulties	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0011968	HP:0011968	Feeding difficulties	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0011968	HP:0011968	Feeding difficulties	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent		31
HP:0011968	HP:0011968	Feeding difficulties	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6			31
HP:0011968	HP:0011968	Feeding difficulties	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011968	HP:0011968	Feeding difficulties	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0011968	HP:0011968	Feeding difficulties	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011968	HP:0011968	Feeding difficulties	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0011968	HP:0011968	Feeding difficulties	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0011968	HP:0011968	Feeding difficulties	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0011968	HP:0011968	Feeding difficulties	0	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus			253
HP:0011968	HP:0011968	Feeding difficulties	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011968	Feeding difficulties	0	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0011968	Feeding difficulties	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0011968	HP:0011968	Feeding difficulties	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0011968	HP:0011968	Feeding difficulties	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011968	HP:0011968	Feeding difficulties	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0011968	HP:0011968	Feeding difficulties	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011968	HP:0011968	Feeding difficulties	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0011968	HP:0011968	Feeding difficulties	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	HP:0040284 - Very rare
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6			45
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040282 - Frequent		82
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0011968	HP:0011968	Feeding difficulties	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0011968	HP:0011968	Feeding difficulties	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0011968	HP:0011968	Feeding difficulties	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0011968	HP:0011968	Feeding difficulties	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011968	HP:0011968	Feeding difficulties	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0011968	HP:0011968	Feeding difficulties	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6			61
HP:0011968	HP:0011968	Feeding difficulties	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011968	HP:0011968	Feeding difficulties	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0011968	HP:0011968	Feeding difficulties	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011968	HP:0011968	Feeding difficulties	0	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate			140
HP:0011968	HP:0011968	Feeding difficulties	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0011968	HP:0011968	Feeding difficulties	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0011968	HP:0011968	Feeding difficulties	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0011968	HP:0011968	Feeding difficulties	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0011968	HP:0011968	Feeding difficulties	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0011968	HP:0011968	Feeding difficulties	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0011968	HP:0011968	Feeding difficulties	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0011968	HP:0011968	Feeding difficulties	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0011968	HP:0011968	Feeding difficulties	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0011968	HP:0011968	Feeding difficulties	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0011968	HP:0011968	Feeding difficulties	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0011968	HP:0011968	Feeding difficulties	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0011968	HP:0011968	Feeding difficulties	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0011968	HP:0011968	Feeding difficulties	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0011968	HP:0011968	Feeding difficulties	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0011968	HP:0011968	Feeding difficulties	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011968	HP:0011968	Feeding difficulties	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	HP:0040283 - Occasional		8
HP:0011968	HP:0011968	Feeding difficulties	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0011968	Feeding difficulties	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0011968	HP:0011968	Feeding difficulties	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0011968	HP:0011968	Feeding difficulties	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0011968	HP:0011968	Feeding difficulties	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0011968	HP:0011968	Feeding difficulties	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011968	HP:0011968	Feeding difficulties	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		3
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		84
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		57
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		102
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0011968	HP:0011968	Feeding difficulties	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0011968	HP:0011968	Feeding difficulties	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0011968	HP:0011968	Feeding difficulties	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0011968	HP:0011968	Feeding difficulties	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		97
HP:0011968	HP:0011968	Feeding difficulties	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0011968	HP:0011968	Feeding difficulties	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0011968	HP:0011968	Feeding difficulties	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0011968	HP:0011968	Feeding difficulties	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0011968	HP:0011968	Feeding difficulties	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0011968	HP:0011968	Feeding difficulties	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0011968	HP:0011968	Feeding difficulties	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0011968	HP:0011968	Feeding difficulties	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0011968	HP:0011968	Feeding difficulties	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0011968	HP:0011968	Feeding difficulties	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.		13
HP:0011968	HP:0011968	Feeding difficulties	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0011968	HP:0011968	Feeding difficulties	0	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13			278
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011968	HP:0011968	Feeding difficulties	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0011968	HP:0011968	Feeding difficulties	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011968	HP:0011968	Feeding difficulties	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.		1
HP:0011968	HP:0011968	Feeding difficulties	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0011968	HP:0011968	Feeding difficulties	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0011968	HP:0011968	Feeding difficulties	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0011968	HP:0011968	Feeding difficulties	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	.
HP:0011968	HP:0011968	Feeding difficulties	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011968	HP:0011968	Feeding difficulties	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011968	HP:0011968	Feeding difficulties	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0011968	HP:0011968	Feeding difficulties	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0011968	HP:0011968	Feeding difficulties	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0011968	HP:0011968	Feeding difficulties	0	UQCC3 CL E G H	790955	34399	OMIM:616111	Mitochondrial complex III deficiency, nuclear type 9	.		6
HP:0011968	HP:0011968	Feeding difficulties	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0011968	HP:0011968	Feeding difficulties	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011968	HP:0011968	Feeding difficulties	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0011968	HP:0011968	Feeding difficulties	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0011968	HP:0011968	Feeding difficulties	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0011968	HP:0011968	Feeding difficulties	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0011968	Feeding difficulties	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0011968	HP:0011968	Feeding difficulties	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0011968	HP:0011968	Feeding difficulties	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0011968	HP:0011968	Feeding difficulties	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0011968	HP:0011968	Feeding difficulties	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011968	HP:0011968	Feeding difficulties	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0011968	HP:0011968	Feeding difficulties	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0011968	HP:0011968	Feeding difficulties	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0011968	HP:0011968	Feeding difficulties	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent		20
HP:0011968	HP:0011968	Feeding difficulties	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011968	HP:0011968	Feeding difficulties	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0011968	HP:0011968	Feeding difficulties	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0011968	HP:0011968	Feeding difficulties	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0011968	HP:0011968	Feeding difficulties	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0011968	HP:0011968	Feeding difficulties	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0011968	HP:0011968	Feeding difficulties	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011968	HP:0011968	Feeding difficulties	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0011968	HP:0011968	Feeding difficulties	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional		14
HP:0011968	HP:0011968	Feeding difficulties	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0011968	HP:0011968	Feeding difficulties	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0011968	HP:0011968	Feeding difficulties	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0011968	HP:0011968	Feeding difficulties	0	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus			149
HP:0011968	HP:0011968	Feeding difficulties	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0011968	HP:0011968	Feeding difficulties	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011968	HP:0011968	Feeding difficulties	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0011968	HP:0011968	Feeding difficulties	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.		7
HP:0011968	HP:0011968	Feeding difficulties	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011968	HP:0011968	Feeding difficulties	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0011968	HP:0011968	Feeding difficulties	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0011968	HP:0011968	Feeding difficulties	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0011968	HP:0011968	Feeding difficulties	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0011968	HP:0011968	Feeding difficulties	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011968	Feeding difficulties	0	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011968	HP:0011968	Feeding difficulties	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011968	HP:0011968	Feeding difficulties	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0011968	HP:0011968	Feeding difficulties	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0011968	HP:0011968	Feeding difficulties	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0011968	HP:0011968	Feeding difficulties	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0011968	HP:0011968	Feeding difficulties	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011968	HP:0011968	Feeding difficulties	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0011968	HP:0011968	Feeding difficulties	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0011968	HP:0011968	Feeding difficulties	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0011968	HP:0012381	Delayed self-feeding during toddler years	1	CL E G H
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011968	HP:0033454	Tube feeding	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0011968	HP:0033454	Tube feeding	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0011968	HP:0033454	Tube feeding	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia			68
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0011968	HP:0033454	Tube feeding	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0011968	HP:0033454	Tube feeding	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0011968	HP:0033454	Tube feeding	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		175
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040283 - Occasional		60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011968	HP:0033454	Tube feeding	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0011968	HP:0033454	Tube feeding	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011968	HP:0033454	Tube feeding	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0011968	HP:0033454	Tube feeding	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2			75
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		62
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011968	HP:0033454	Tube feeding	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent		145
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040281 - Very frequent		49
HP:0011968	HP:0033454	Tube feeding	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent		192
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.		67
HP:0011968	HP:0033454	Tube feeding	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		28
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011968	HP:0033454	Tube feeding	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome			314
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0011968	HP:0033454	Tube feeding	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7	.		276
HP:0011968	HP:0033454	Tube feeding	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0011968	HP:0033454	Tube feeding	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0011968	HP:0033454	Tube feeding	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0011968	HP:0033454	Tube feeding	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4			118
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0011968	HP:0033454	Tube feeding	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		114
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011968	HP:0033454	Tube feeding	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0011968	HP:0033454	Tube feeding	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011968	HP:0033454	Tube feeding	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0011968	HP:0033454	Tube feeding	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011968	HP:0033454	Tube feeding	1	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly			200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		90
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		515
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		3
HP:0011968	HP:0033454	Tube feeding	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011968	HP:0033454	Tube feeding	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0011968	HP:0033454	Tube feeding	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.		58
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0011968	HP:0033454	Tube feeding	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0011968	HP:0033454	Tube feeding	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0011968	HP:0033454	Tube feeding	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011968	HP:0033454	Tube feeding	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0011968	HP:0033454	Tube feeding	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0011968	HP:0033454	Tube feeding	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			678
HP:0011968	HP:0033454	Tube feeding	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis			18
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011968	HP:0033454	Tube feeding	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0011968	HP:0033454	Tube feeding	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0011968	HP:0033454	Tube feeding	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0011968	HP:0033454	Tube feeding	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011968	HP:0033454	Tube feeding	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.		73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011968	HP:0033454	Tube feeding	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0011968	HP:0033454	Tube feeding	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional		145
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011968	HP:0033454	Tube feeding	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011968	HP:0033454	Tube feeding	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0011968	HP:0033454	Tube feeding	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011968	HP:0033454	Tube feeding	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011968	HP:0033454	Tube feeding	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011968	HP:0033454	Tube feeding	1	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly			22
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLEC1 CL E G H	9940	2899	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011968	HP:0033454	Tube feeding	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011968	HP:0033454	Tube feeding	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011968	HP:0033454	Tube feeding	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011968	HP:0033454	Tube feeding	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011968	HP:0033454	Tube feeding	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011968	HP:0033454	Tube feeding	1	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0011968	HP:0033454	Tube feeding	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0011968	HP:0033454	Tube feeding	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0011968	HP:0033454	Tube feeding	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.		44
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0011968	HP:0033454	Tube feeding	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		304
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0011968	HP:0033454	Tube feeding	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0011968	HP:0033454	Tube feeding	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent		2
HP:0011968	HP:0033454	Tube feeding	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0011968	HP:0033454	Tube feeding	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040283 - Occasional		40
HP:0011968	HP:0033454	Tube feeding	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease			83
HP:0011968	HP:0033454	Tube feeding	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		106
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		83
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent		199
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0011968	HP:0033454	Tube feeding	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040281 - Very frequent		114
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0011968	HP:0033454	Tube feeding	1	FBP2 CL E G H	8789	3607	OMIM:619864
HP:0011968	HP:0033454	Tube feeding	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly			17
HP:0011968	HP:0033454	Tube feeding	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011968	HP:0033454	Tube feeding	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent		175
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040281 - Very frequent		8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.		493
HP:0011968	HP:0033994	Dependency on parenteral nutrition	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011968	HP:0033454	Tube feeding	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0011968	HP:0033454	Tube feeding	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011968	HP:0033454	Tube feeding	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0011968	HP:0033454	Tube feeding	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0011968	HP:0033454	Tube feeding	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features			184
HP:0011968	HP:0033454	Tube feeding	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0011968	HP:0033454	Tube feeding	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0011968	HP:0033454	Tube feeding	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly			2
HP:0011968	HP:0033454	Tube feeding	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011968	HP:0033454	Tube feeding	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0011968	HP:0033454	Tube feeding	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0011968	HP:0033454	Tube feeding	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0011968	HP:0033454	Tube feeding	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0011968	HP:0033454	Tube feeding	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011968	HP:0033454	Tube feeding	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011968	HP:0033454	Tube feeding	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0011968	HP:0033454	Tube feeding	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011968	HP:0033454	Tube feeding	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum			12
HP:0011968	HP:0033454	Tube feeding	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0011968	HP:0033454	Tube feeding	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GSX2 CL E G H	170825	24959	OMIM:618646	DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		4
HP:0011968	HP:0033454	Tube feeding	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		41
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0011968	HP:0033454	Tube feeding	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011968	HP:0033454	Tube feeding	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HLCS CL E G H	3141	4976	OMIM:253270	Holocarboxylase synthetase deficiency	.		148
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		2
HP:0011968	HP:0033454	Tube feeding	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0011968	HP:0033454	Tube feeding	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		31
HP:0011968	HP:0033454	Tube feeding	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		148
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.		9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent		9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		111
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0033454	Tube feeding	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0011968	HP:0033454	Tube feeding	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0011968	HP:0033454	Tube feeding	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0011968	HP:0033454	Tube feeding	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0011968	HP:0033454	Tube feeding	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011968	HP:0033454	Tube feeding	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0011968	HP:0033454	Tube feeding	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0011968	HP:0033454	Tube feeding	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		24
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		4
HP:0011968	HP:0033454	Tube feeding	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		167
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0011968	HP:0033454	Tube feeding	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011968	HP:0033454	Tube feeding	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0011968	HP:0033454	Tube feeding	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011968	HP:0033454	Tube feeding	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.		411
HP:0011968	HP:0033454	Tube feeding	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0011968	HP:0033454	Tube feeding	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011968	HP:0033454	Tube feeding	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0011968	HP:0033454	Tube feeding	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0011968	HP:0033454	Tube feeding	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0011968	HP:0033454	Tube feeding	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional		11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0011968	HP:0033454	Tube feeding	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0011968	HP:0033454	Tube feeding	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011968	HP:0033454	Tube feeding	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0011968	HP:0033454	Tube feeding	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0033454	Tube feeding	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		127
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0011968	HP:0033454	Tube feeding	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0011968	HP:0033454	Tube feeding	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.		60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0011968	HP:0033454	Tube feeding	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.		217
HP:0011968	HP:0033454	Tube feeding	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		166
HP:0011968	HP:0033454	Tube feeding	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0011968	HP:0033454	Tube feeding	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0011968	HP:0033454	Tube feeding	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0011968	HP:0033454	Tube feeding	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040281 - Very frequent		1
HP:0011968	HP:0033454	Tube feeding	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040281 - Very frequent		48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011968	HP:0033454	Tube feeding	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent		40
HP:0011968	HP:0033454	Tube feeding	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease			77
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0011968	HP:0033454	Tube feeding	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011968	HP:0033454	Tube feeding	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0011968	HP:0033454	Tube feeding	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0011968	HP:0033454	Tube feeding	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011968	HP:0033454	Tube feeding	1	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly			45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011968	HP:0033454	Tube feeding	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011968	HP:0033454	Tube feeding	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011968	HP:0033454	Tube feeding	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		121
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		121
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		121
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		201
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011968	HP:0033454	Tube feeding	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.		55
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011968	HP:0033454	Tube feeding	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement			5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0011968	HP:0033454	Tube feeding	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0011968	HP:0033454	Tube feeding	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011968	HP:0033454	Tube feeding	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011968	HP:0033454	Tube feeding	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0011968	HP:0033454	Tube feeding	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040282 - Frequent		29
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011968	HP:0033454	Tube feeding	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011968	HP:0033454	Tube feeding	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0011968	HP:0033454	Tube feeding	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011968	HP:0033454	Tube feeding	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011968	HP:0033454	Tube feeding	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011968	HP:0033454	Tube feeding	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0011968	HP:0033454	Tube feeding	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0011968	HP:0033454	Tube feeding	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent		3
HP:0011968	HP:0033454	Tube feeding	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0011968	HP:0033454	Tube feeding	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0011968	HP:0033454	Tube feeding	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011968	HP:0033454	Tube feeding	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0011968	HP:0033454	Tube feeding	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0011968	HP:0033454	Tube feeding	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040281 - Very frequent		27
HP:0011968	HP:0033454	Tube feeding	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0011968	HP:0033454	Tube feeding	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0011968	HP:0033454	Tube feeding	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011968	HP:0033454	Tube feeding	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0011968	HP:0033454	Tube feeding	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011968	HP:0033454	Tube feeding	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011968	HP:0033454	Tube feeding	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0011968	HP:0033454	Tube feeding	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly			665
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0011968	HP:0033454	Tube feeding	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0011968	HP:0033454	Tube feeding	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040281 - Very frequent		53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0033454	Tube feeding	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0033454	Tube feeding	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040281 - Very frequent		150
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0011968	HP:0033454	Tube feeding	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0011968	HP:0033454	Tube feeding	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0011968	HP:0033454	Tube feeding	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent		3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011968	HP:0033454	Tube feeding	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RNF6 CL E G H	6049	10069	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent		3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent		65
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0011968	HP:0033454	Tube feeding	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.		55
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0011968	HP:0033454	Tube feeding	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011968	HP:0033454	Tube feeding	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011968	HP:0033454	Tube feeding	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.		67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0011968	HP:0033454	Tube feeding	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent		16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0011968	HP:0033454	Tube feeding	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011968	HP:0033454	Tube feeding	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly			67
HP:0011968	HP:0033454	Tube feeding	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome			40
HP:0011968	HP:0033454	Tube feeding	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011968	HP:0033454	Tube feeding	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0011968	HP:0033454	Tube feeding	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.		101
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0011968	HP:0033454	Tube feeding	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.		122
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent		93
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011968	HP:0033454	Tube feeding	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011968	HP:0033454	Tube feeding	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0033454	Tube feeding	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent		37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0011968	HP:0033454	Tube feeding	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0011968	HP:0033454	Tube feeding	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011968	HP:0033454	Tube feeding	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0011968	HP:0033454	Tube feeding	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011968	HP:0033454	Tube feeding	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011968	HP:0033454	Tube feeding	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011968	HP:0033454	Tube feeding	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0011968	HP:0033454	Tube feeding	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0011968	HP:0033454	Tube feeding	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011968	HP:0033454	Tube feeding	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011968	HP:0033454	Tube feeding	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0011968	HP:0033454	Tube feeding	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011968	HP:0033454	Tube feeding	1	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly			99
HP:0011968	HP:0033994	Dependency on parenteral nutrition	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		124
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011968	HP:0033454	Tube feeding	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SYNGAP1 CL E G H	8831	11497	ORPHA:544254	SYNGAP1-related developmental and epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040282 - Frequent		12
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011968	HP:0033454	Tube feeding	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		76
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		31
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011968	HP:0033454	Tube feeding	1	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0011968	HP:0033454	Tube feeding	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGFBR2 CL E G H	7048	11773	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent		253
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0011968	HP:0033454	Tube feeding	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly			32
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		45
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		82
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent		166
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040282 - Frequent
HP:0011968	HP:0033454	Tube feeding	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040282 - Frequent		61
HP:0011968	HP:0033454	Tube feeding	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011968	HP:0033454	Tube feeding	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0011968	HP:0033454	Tube feeding	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0011968	HP:0033454	Tube feeding	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0011968	HP:0033454	Tube feeding	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0011968	HP:0033454	Tube feeding	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0011968	HP:0033454	Tube feeding	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0011968	HP:0033454	Tube feeding	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0011968	HP:0033454	Tube feeding	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0011968	HP:0033454	Tube feeding	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0011968	HP:0033454	Tube feeding	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0011968	HP:0033454	Tube feeding	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0011968	HP:0033454	Tube feeding	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.		1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		132
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent		64
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0011968	HP:0033454	Tube feeding	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.		278
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent		278
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011968	HP:0033454	Tube feeding	1	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0011968	HP:0033454	Tube feeding	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011968	HP:0033454	Tube feeding	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0011968	HP:0033454	Tube feeding	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0011968	HP:0033454	Tube feeding	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		95
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0011968	HP:0033454	Tube feeding	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		389
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	WWOX CL E G H	51741	12799	ORPHA:99977	Squamous cell carcinoma of the esophagus	HP:0040281 - Very frequent		149
HP:0011968	HP:0033454	Tube feeding	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0011968	HP:0033454	Tube feeding	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011968	HP:0033454	Tube feeding	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011968	HP:0033454	Tube feeding	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011968	HP:0033454	Tube feeding	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0011968	HP:0033454	Tube feeding	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0011968	HP:0033454	Tube feeding	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly			34
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011968	HP:0033454	Tube feeding	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011968	HP:0008872	Feeding difficulties in infancy	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0011968	HP:0002033	Poor suck	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0011968	HP:0040288	Nasogastric tube feeding	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional		68
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent		6
HP:0011968	HP:0002033	Poor suck	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0011968	HP:0011469	Nasal regurgitation	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	ARHGAP29 CL E G H	9411	30207	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		6
HP:0011968	HP:0002033	Poor suck	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040284 - Very rare		48
HP:0011968	HP:0002033	Poor suck	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040283 - Occasional		48
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0011968	HP:0002033	Poor suck	2	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0011968	HP:0002033	Poor suck	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0011968	HP:0002033	Poor suck	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0011968	HP:0002033	Poor suck	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0011968	HP:0002033	Poor suck	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0011968	HP:0030884	Gastrojejunal tube feeding in infancy	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional		314
HP:0011968	HP:0002033	Poor suck	2	BMP4 CL E G H	652	1071	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		38
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0011968	HP:0002033	Poor suck	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0011968	HP:0040288	Nasogastric tube feeding	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		53
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0011968	HP:0040288	Nasogastric tube feeding	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0011968	HP:0002033	Poor suck	2	CDH1 CL E G H	999	1748	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1003
HP:0011968	HP:0002033	Poor suck	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011968	HP:0002033	Poor suck	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011968	HP:0002033	Poor suck	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0011968	HP:0002033	Poor suck	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		200
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CDON CL E G H	50937	17104	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		200
HP:0011968	HP:0002033	Poor suck	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0011968	HP:0011469	Nasal regurgitation	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0011968	HP:0002033	Poor suck	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0011968	HP:0002033	Poor suck	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0011968	HP:0002033	Poor suck	2	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0011968	HP:0002033	Poor suck	2	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0011968	HP:0002033	Poor suck	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011968	HP:0040288	Nasogastric tube feeding	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		9
HP:0011968	HP:0040288	Nasogastric tube feeding	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040283 - Occasional		27
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040283 - Occasional		111
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0011968	HP:0002033	Poor suck	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0011968	HP:0011469	Nasal regurgitation	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0011968	HP:0002033	Poor suck	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0011968	HP:0002033	Poor suck	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0011968	HP:0040288	Nasogastric tube feeding	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		678
HP:0011968	HP:0040288	Nasogastric tube feeding	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional		18
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0011968	HP:0002033	Poor suck	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0011968	HP:0002033	Poor suck	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0011968	HP:0002033	Poor suck	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011968	HP:0002033	Poor suck	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0011968	HP:0002033	Poor suck	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0002033	Poor suck	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		22
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DISP1 CL E G H	84976	19711	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		22
HP:0011968	HP:0002033	Poor suck	2	DLG1 CL E G H	1739	2900	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent
HP:0011968	HP:0002033	Poor suck	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011968	HP:0002033	Poor suck	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0011968	HP:0002033	Poor suck	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0002033	Poor suck	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DLL1 CL E G H	28514	2908	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		3
HP:0011968	HP:0002033	Poor suck	2	DLX4 CL E G H	1748	2917	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0011968	HP:0040288	Nasogastric tube feeding	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0011968	HP:0002033	Poor suck	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0011968	HP:0002033	Poor suck	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0011968	HP:0002033	Poor suck	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0011968	HP:0002033	Poor suck	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011968	HP:0030884	Gastrojejunal tube feeding in infancy	2	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB			1
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0011968	HP:0040288	Nasogastric tube feeding	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0011968	HP:0002033	Poor suck	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011968	HP:0002033	Poor suck	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011968	HP:0002033	Poor suck	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0011968	HP:0002033	Poor suck	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGF8 CL E G H	2253	3686	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0011968	HP:0002033	Poor suck	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0011968	HP:0002033	Poor suck	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		172
HP:0011968	HP:0002033	Poor suck	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011968	HP:0002033	Poor suck	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0011968	HP:0002033	Poor suck	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0002033	Poor suck	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		48
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FOXH1 CL E G H	8928	3814	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		48
HP:0011968	HP:0040288	Nasogastric tube feeding	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0002033	Poor suck	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GAS1 CL E G H	2619	4165	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		2
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0011968	HP:0002033	Poor suck	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011968	HP:0002033	Poor suck	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0002033	Poor suck	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0011968	HP:0002033	Poor suck	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0002033	Poor suck	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		173
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GLI2 CL E G H	2736	4318	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		173
HP:0011968	HP:0002033	Poor suck	2	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011968	HP:0040288	Nasogastric tube feeding	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011968	HP:0002033	Poor suck	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare		240
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0011469	Nasal regurgitation	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0011968	HP:0002033	Poor suck	2	GRHL3 CL E G H	57822	25839	ORPHA:99772	Cleft velum	HP:0040282 - Frequent		12
HP:0011968	HP:0040288	Nasogastric tube feeding	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0011968	HP:0002033	Poor suck	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0011968	HP:0040288	Nasogastric tube feeding	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0011968	HP:0002033	Poor suck	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0011968	HP:0002033	Poor suck	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional		113
HP:0011968	HP:0002033	Poor suck	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0011968	HP:0002033	Poor suck	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0011968	HP:0002033	Poor suck	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0011968	HP:0002033	Poor suck	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0002033	Poor suck	2	IRF6 CL E G H	3664	6121	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent		3
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0011968	HP:0040288	Nasogastric tube feeding	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0011968	HP:0002033	Poor suck	2	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51			2
HP:0011968	HP:0040288	Nasogastric tube feeding	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		110
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent		173
HP:0011968	HP:0002033	Poor suck	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0011968	HP:0002033	Poor suck	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0011968	HP:0002033	Poor suck	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent		63
HP:0011968	HP:0040288	Nasogastric tube feeding	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0011968	HP:0002033	Poor suck	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0011968	HP:0002033	Poor suck	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0011968	HP:0040288	Nasogastric tube feeding	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0011968	HP:0002033	Poor suck	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0011968	HP:0002033	Poor suck	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0040288	Nasogastric tube feeding	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0011968	HP:0040288	Nasogastric tube feeding	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0011968	HP:0002033	Poor suck	2	MSX1 CL E G H	4487	7391	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		12
HP:0011968	HP:0002033	Poor suck	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0011968	HP:0040288	Nasogastric tube feeding	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0011968	HP:0002033	Poor suck	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0011968	HP:0011469	Nasal regurgitation	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0011968	HP:0002033	Poor suck	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011968	HP:0040288	Nasogastric tube feeding	2	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional		1
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		48
HP:0011968	HP:0002033	Poor suck	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0011968	HP:0002033	Poor suck	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0011968	HP:0002033	Poor suck	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0011968	HP:0002033	Poor suck	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0011968	HP:0002033	Poor suck	2	NECTIN1 CL E G H	5818	9706	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		4
HP:0011968	HP:0040288	Nasogastric tube feeding	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011968	HP:0002033	Poor suck	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0002033	Poor suck	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011968	HP:0002033	Poor suck	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0011968	HP:0002033	Poor suck	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		45
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NODAL CL E G H	4838	7865	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		45
HP:0011968	HP:0040288	Nasogastric tube feeding	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0011968	HP:0002033	Poor suck	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0011968	HP:0002033	Poor suck	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0011968	HP:0002033	Poor suck	2	NUDT2 CL E G H	318	8049	OMIM:619844
HP:0011968	HP:0002033	Poor suck	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0011968	HP:0040288	Nasogastric tube feeding	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040282 - Frequent		5
HP:0011968	HP:0002033	Poor suck	2	PDGFRA CL E G H	5156	8803	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		337
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0011968	HP:0002033	Poor suck	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0011968	HP:0002033	Poor suck	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0011968	HP:0002033	Poor suck	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0011968	HP:0040288	Nasogastric tube feeding	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0011968	HP:0002033	Poor suck	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0011968	HP:0002033	Poor suck	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent
HP:0011968	HP:0040288	Nasogastric tube feeding	2	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040283 - Occasional		60
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0011968	HP:0002033	Poor suck	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0011968	HP:0002033	Poor suck	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		13
HP:0011968	HP:0002033	Poor suck	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	HP:0003593 - Infantile onset	28
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0011968	HP:0040288	Nasogastric tube feeding	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0011968	HP:0040288	Nasogastric tube feeding	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0011968	HP:0002033	Poor suck	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011968	HP:0002033	Poor suck	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011968	HP:0002033	Poor suck	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0011968	HP:0002033	Poor suck	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		665
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTCH1 CL E G H	5727	9585	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		665
HP:0011968	HP:0002033	Poor suck	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0011968	HP:0002033	Poor suck	2	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0011968	HP:0002033	Poor suck	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0002033	Poor suck	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0011968	HP:0002033	Poor suck	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0011968	HP:0002033	Poor suck	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0011968	HP:0040288	Nasogastric tube feeding	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0011968	HP:0002033	Poor suck	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0011968	HP:0002033	Poor suck	2	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0011968	HP:0002033	Poor suck	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040282 - Frequent
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011968	HP:0002033	Poor suck	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040282 - Frequent		34
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0011968	HP:0002033	Poor suck	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		66
HP:0011968	HP:0002033	Poor suck	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0011968	HP:0002033	Poor suck	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011968	HP:0002033	Poor suck	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0011968	HP:0002033	Poor suck	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0002033	Poor suck	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SHH CL E G H	6469	10848	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		67
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0011968	HP:0002033	Poor suck	2	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0011968	HP:0002033	Poor suck	2	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0011968	HP:0040288	Nasogastric tube feeding	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0002033	Poor suck	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SIX3 CL E G H	6496	10889	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0011469	Nasal regurgitation	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0011968	HP:0002033	Poor suck	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0011968	HP:0011469	Nasal regurgitation	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0011968	HP:0002033	Poor suck	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0011968	HP:0002033	Poor suck	2	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0011968	HP:0040288	Nasogastric tube feeding	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0011968	HP:0002033	Poor suck	2	SLC52A1 CL E G H	55065	30225	OMIM:615026	Riboflavin deficiency	.		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0011968	HP:0002033	Poor suck	2	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0011968	HP:0011469	Nasal regurgitation	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0011968	HP:0002033	Poor suck	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0011968	HP:0002033	Poor suck	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0011968	HP:0002033	Poor suck	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0011968	HP:0002033	Poor suck	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		135
HP:0011968	HP:0011469	Nasal regurgitation	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011968	HP:0002033	Poor suck	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0002033	Poor suck	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0002033	Poor suck	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0011968	HP:0002033	Poor suck	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040281 - Very frequent		37
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0011968	HP:0002033	Poor suck	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0011968	HP:0002033	Poor suck	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011968	HP:0002033	Poor suck	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0011968	HP:0040288	Nasogastric tube feeding	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0002033	Poor suck	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011968	HP:0002033	Poor suck	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0011968	HP:0002033	Poor suck	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0011968	HP:0002033	Poor suck	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		99
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	STIL CL E G H	6491	10879	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		99
HP:0011968	HP:0002033	Poor suck	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0011968	HP:0011469	Nasal regurgitation	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0011968	HP:0002033	Poor suck	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0011968	HP:0002033	Poor suck	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0011968	HP:0002033	Poor suck	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0011968	HP:0002033	Poor suck	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0002033	Poor suck	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TDGF1 CL E G H	6997	11701	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		1
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040283 - Occasional		18
HP:0011968	HP:0002033	Poor suck	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0002033	Poor suck	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		32
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TGIF1 CL E G H	7050	11776	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		32
HP:0011968	HP:0011469	Nasal regurgitation	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0011968	HP:0002033	Poor suck	2	TP63 CL E G H	8626	15979	ORPHA:199306	Cleft lip/palate	HP:0040282 - Frequent		140
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011968	HP:0002033	Poor suck	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0011968	HP:0002033	Poor suck	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0011968	HP:0002033	Poor suck	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		3
HP:0011968	HP:0002033	Poor suck	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		84
HP:0011968	HP:0002033	Poor suck	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0011968	HP:0002033	Poor suck	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0011968	HP:0002033	Poor suck	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		57
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		102
HP:0011968	HP:0002033	Poor suck	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0011968	HP:0002033	Poor suck	2	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0011968	HP:0011469	Nasal regurgitation	2	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0011968	HP:0030884	Gastrojejunal tube feeding in infancy	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0011968	HP:0002033	Poor suck	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent		35
HP:0011968	HP:0002033	Poor suck	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0011968	HP:0011469	Nasal regurgitation	2	UBB CL E G H	7314	12463	ORPHA:99772	Cleft velum	HP:0040282 - Frequent
HP:0011968	HP:0002033	Poor suck	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040283 - Occasional		278
HP:0011968	HP:0002033	Poor suck	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0011968	HP:0002033	Poor suck	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional		1
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0011968	HP:0002033	Poor suck	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0011968	HP:0011470	Nasogastric tube feeding in infancy	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040283 - Occasional		23
HP:0011968	HP:0002033	Poor suck	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0011968	HP:0002033	Poor suck	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0011968	HP:0002033	Poor suck	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0011968	HP:0011469	Nasal regurgitation	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0011968	HP:0040288	Nasogastric tube feeding	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0011968	HP:0002033	Poor suck	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0011968	HP:0040288	Nasogastric tube feeding	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011968	HP:0002033	Poor suck	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011968	HP:0002033	Poor suck	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0011968	HP:0002033	Poor suck	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0011968	HP:0002033	Poor suck	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040281 - Very frequent		34
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0011968	HP:0011471	Gastrostomy tube feeding in infancy	2	ZIC2 CL E G H	7546	12873	ORPHA:280195	Septopreoptic holoprosencephaly	HP:0040283 - Occasional		34
HP:0011968	HP:0040288	Nasogastric tube feeding	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0011968	HP:0002033	Poor suck	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS