Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001290	HP:0001290	Generalized hypotonia	0	AARS CL E G H	16	442835				ORPHA	1		20	601065
HP:0001290	HP:0001290	Generalized hypotonia	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001290	HP:0001290	Generalized hypotonia	0	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001290	HP:0001290	Generalized hypotonia	0	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001290	HP:0001290	Generalized hypotonia	0	ACAD9 CL E G H	28976	99901				ORPHA	1	771	21497	611103
HP:0001290	HP:0001290	Generalized hypotonia	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001290	HP:0001290	Generalized hypotonia	0	ACADL CL E G H	33	99900				ORPHA	1	62	88	609576
HP:0001290	HP:0001290	Generalized hypotonia	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	749	89	607008
HP:0001290	HP:0001290	Generalized hypotonia	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0001290	HP:0001290	Generalized hypotonia	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	337	91	600301
HP:0001290	HP:0001290	Generalized hypotonia	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1594	92	609575
HP:0001290	HP:0001290	Generalized hypotonia	0	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0001290	HP:0001290	Generalized hypotonia	0	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0001290	HP:0001290	Generalized hypotonia	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	44	123	171650
HP:0001290	HP:0001290	Generalized hypotonia	0	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0001290	HP:0001290	Generalized hypotonia	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0001290	HP:0001290	Generalized hypotonia	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	153	177	104620
HP:0001290	HP:0001290	Generalized hypotonia	0	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	127	25151	615302
HP:0001290	HP:0001290	Generalized hypotonia	0	ADCY6 CL E G H	112	616287	Lethal congenital contracture syndrome 8	616287	C4225385	OMIM	1	110	237	600294
HP:0001290	HP:0001290	Generalized hypotonia	0	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	137	257	102750
HP:0001290	HP:0001290	Generalized hypotonia	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0001290	HP:0001290	Generalized hypotonia	0	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	808	291	608222
HP:0001290	HP:0001290	Generalized hypotonia	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001290	HP:0001290	Generalized hypotonia	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	509	318	613228
HP:0001290	HP:0001290	Generalized hypotonia	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001290	HP:0001290	Generalized hypotonia	0	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	105	17258	606830
HP:0001290	HP:0001290	Generalized hypotonia	0	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	840	25230	615790
HP:0001290	HP:0001290	Generalized hypotonia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0001290	HP:0001290	Generalized hypotonia	0	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0001290	HP:0001290	Generalized hypotonia	0	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	575	8768	300169
HP:0001290	HP:0001290	Generalized hypotonia	0	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	586	9722	138250
HP:0001290	HP:0001290	Generalized hypotonia	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	586	9722	138250
HP:0001290	HP:0001290	Generalized hypotonia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	763	408	610045
HP:0001290	HP:0001290	Generalized hypotonia	0	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	209	7179	603178
HP:0001290	HP:0001290	Generalized hypotonia	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	884	877	107323
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	648	18294	605907
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG12 CL E G H	79087	607143	ALG12-congenital disorder of glycosylation	607143	C2931001	OMIM	1	659	19358	607144
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG13 CL E G H	79868	324422				ORPHA	1	950	30881	300776
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	950	30881	300776
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG8 CL E G H	79053	608104	Congenital disorder of glycosylation type 1H	608104	C2931002	OMIM	1	286	23161	608103
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	312	15672	606941
HP:0001290	HP:0001290	Generalized hypotonia	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	934	438	171760
HP:0001290	HP:0001290	Generalized hypotonia	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	450	26837	300647
HP:0001290	HP:0001290	Generalized hypotonia	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	591	473	238310
HP:0001290	HP:0001290	Generalized hypotonia	0	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	1073	494	600465
HP:0001290	HP:0001290	Generalized hypotonia	0	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001290	HP:0001290	Generalized hypotonia	0	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0001290	HP:0001290	Generalized hypotonia	0	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	241	560	300629
HP:0001290	HP:0001290	Generalized hypotonia	0	AP3B2 CL E G H	8120	442835				ORPHA	1	690	567	602166
HP:0001290	HP:0001290	Generalized hypotonia	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	690	567	602166
HP:0001290	HP:0001290	Generalized hypotonia	0	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	568	607246
HP:0001290	HP:0001290	Generalized hypotonia	0	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0001290	HP:0001290	Generalized hypotonia	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0001290	HP:0001290	Generalized hypotonia	0	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	641	15853	605371
HP:0001290	HP:0001290	Generalized hypotonia	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	394	29216	610911
HP:0001290	HP:0001290	Generalized hypotonia	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	930	11110	603024
HP:0001290	HP:0001290	Generalized hypotonia	0	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	313	18037	609539
HP:0001290	HP:0001290	Generalized hypotonia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0001290	HP:0001290	Generalized hypotonia	0	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0001290	HP:0001290	Generalized hypotonia	0	ARSA CL E G H	410	309256				ORPHA	1	1140	713	607574
HP:0001290	HP:0001290	Generalized hypotonia	0	ARSA CL E G H	410	309263				ORPHA	1	1140	713	607574
HP:0001290	HP:0001290	Generalized hypotonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0001290	HP:0001290	Generalized hypotonia	0	ARV1 CL E G H	64801	442835				ORPHA	1	89	29561	611647
HP:0001290	HP:0001290	Generalized hypotonia	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	89	29561	611647
HP:0001290	HP:0001290	Generalized hypotonia	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	810	18060	300382
HP:0001290	HP:0001290	Generalized hypotonia	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0001290	HP:0001290	Generalized hypotonia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	780	18318	612990
HP:0001290	HP:0001290	Generalized hypotonia	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0001290	HP:0001290	Generalized hypotonia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0001290	HP:0001290	Generalized hypotonia	0	ATCAY CL E G H	85300	94122				ORPHA	1	209	779	608179
HP:0001290	HP:0001290	Generalized hypotonia	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	209	779	608179
HP:0001290	HP:0001290	Generalized hypotonia	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	230	794	601731
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	209	823	164360
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	610	18481	611716
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP6V1A CL E G H	523	442835				ORPHA	1	229	851	607027
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1	229	851	607027
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	196	857	108746
HP:0001290	HP:0001290	Generalized hypotonia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0001290	HP:0001290	Generalized hypotonia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0001290	HP:0001290	Generalized hypotonia	0	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0001290	HP:0001290	Generalized hypotonia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0001290	HP:0001290	Generalized hypotonia	0	B3GALT6 CL E G H	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	615349	C3809210	OMIM	1	450	17978	615291
HP:0001290	HP:0001290	Generalized hypotonia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	450	17978	615291
HP:0001290	HP:0001290	Generalized hypotonia	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0001290	HP:0001290	Generalized hypotonia	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	358	930	604327
HP:0001290	HP:0001290	Generalized hypotonia	0	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	310	24123	614144
HP:0001290	HP:0001290	Generalized hypotonia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	596	986	608348
HP:0001290	HP:0001290	Generalized hypotonia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	647	987	248611
HP:0001290	HP:0001290	Generalized hypotonia	0	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	525	13222	606558
HP:0001290	HP:0001290	Generalized hypotonia	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001290	HP:0001290	Generalized hypotonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0001290	HP:0001290	Generalized hypotonia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0001290	HP:0001290	Generalized hypotonia	0	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0001290	HP:0001290	Generalized hypotonia	0	BIN1 CL E G H	274	169186				ORPHA	1	656	1052	601248
HP:0001290	HP:0001290	Generalized hypotonia	0	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	316	24154	608699
HP:0001290	HP:0001290	Generalized hypotonia	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0001290	HP:0001290	Generalized hypotonia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0001290	HP:0001290	Generalized hypotonia	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	1182	1097	164757
HP:0001290	HP:0001290	Generalized hypotonia	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0001290	HP:0001290	Generalized hypotonia	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	679	17342	300553
HP:0001290	HP:0001290	Generalized hypotonia	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	303	16512	606412
HP:0001290	HP:0001290	Generalized hypotonia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	598	1122	609019
HP:0001290	HP:0001290	Generalized hypotonia	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	1529	1149	602860
HP:0001290	HP:0001290	Generalized hypotonia	0	C12orf4 CL E G H	57102	618221	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	618221		OMIM	1		1184	616082
HP:0001290	HP:0001290	Generalized hypotonia	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	289	29521	615140
HP:0001290	HP:0001290	Generalized hypotonia	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0001290	HP:0001290	Generalized hypotonia	0	C19orf12 CL E G H	83636	320370				ORPHA	1	307	25443	614297
HP:0001290	HP:0001290	Generalized hypotonia	0	CACNA1A CL E G H	773	442835				ORPHA	1	3248	1388	601011
HP:0001290	HP:0001290	Generalized hypotonia	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	3248	1388	601011
HP:0001290	HP:0001290	Generalized hypotonia	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001290	HP:0001290	Generalized hypotonia	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	299	19721	613165
HP:0001290	HP:0001290	Generalized hypotonia	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	844	1497	300172
HP:0001290	HP:0001290	Generalized hypotonia	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0001290	HP:0001290	Generalized hypotonia	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0001290	HP:0001290	Generalized hypotonia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001290	HP:0001290	Generalized hypotonia	0	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	294	28909	300859
HP:0001290	HP:0001290	Generalized hypotonia	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0001290	HP:0001290	Generalized hypotonia	0	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	563	14153	614666
HP:0001290	HP:0001290	Generalized hypotonia	0	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	82	1689	107271
HP:0001290	HP:0001290	Generalized hypotonia	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	111	16892	606037
HP:0001290	HP:0001290	Generalized hypotonia	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	88	1736	116952
HP:0001290	HP:0001290	Generalized hypotonia	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0001290	HP:0001290	Generalized hypotonia	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1738	11411	300203
HP:0001290	HP:0001290	Generalized hypotonia	0	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	433	26690	613446
HP:0001290	HP:0001290	Generalized hypotonia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	2944	29021	610142
HP:0001290	HP:0001290	Generalized hypotonia	0	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	435	12370	610523
HP:0001290	HP:0001290	Generalized hypotonia	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0001290	HP:0001290	Generalized hypotonia	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0001290	HP:0001290	Generalized hypotonia	0	CHD1 CL E G H	1105	529965				ORPHA	1	217	1915	602118
HP:0001290	HP:0001290	Generalized hypotonia	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0001290	HP:0001290	Generalized hypotonia	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0001290	HP:0001290	Generalized hypotonia	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0001290	HP:0001290	Generalized hypotonia	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0001290	HP:0001290	Generalized hypotonia	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0001290	HP:0001290	Generalized hypotonia	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	268	24464	608429
HP:0001290	HP:0001290	Generalized hypotonia	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0001290	HP:0001290	Generalized hypotonia	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	230	2026	602024
HP:0001290	HP:0001290	Generalized hypotonia	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	478	2027	602023
HP:0001290	HP:0001290	Generalized hypotonia	0	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001290	HP:0001290	Generalized hypotonia	0	CLTC CL E G H	1213	442835				ORPHA	1	645	2092	118955
HP:0001290	HP:0001290	Generalized hypotonia	0	CNKSR2 CL E G H	22866	442835				ORPHA	1	306	19701	300724
HP:0001290	HP:0001290	Generalized hypotonia	0	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	425	8011	602346
HP:0001290	HP:0001290	Generalized hypotonia	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0001290	HP:0001290	Generalized hypotonia	0	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	339	18620	606976
HP:0001290	HP:0001290	Generalized hypotonia	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	456	18622	606978
HP:0001290	HP:0001290	Generalized hypotonia	0	COL12A1 CL E G H	1303	75840				ORPHA	1	2548	2188	120320
HP:0001290	HP:0001290	Generalized hypotonia	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0001290	HP:0001290	Generalized hypotonia	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0001290	HP:0001290	Generalized hypotonia	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	2428	2197	120150
HP:0001290	HP:0001290	Generalized hypotonia	0	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1759	2198	120160
HP:0001290	HP:0001290	Generalized hypotonia	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	2380	2200	120140
HP:0001290	HP:0001290	Generalized hypotonia	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1718	2211	120220
HP:0001290	HP:0001290	Generalized hypotonia	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1928	2212	120240
HP:0001290	HP:0001290	Generalized hypotonia	0	COL6A3 CL E G H	1293	75840				ORPHA	1	3001	2213	120250
HP:0001290	HP:0001290	Generalized hypotonia	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0001290	HP:0001290	Generalized hypotonia	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	203	2244	601683
HP:0001290	HP:0001290	Generalized hypotonia	0	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0001290	HP:0001290	Generalized hypotonia	0	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	276	25302	612837
HP:0001290	HP:0001290	Generalized hypotonia	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0001290	HP:0001290	Generalized hypotonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0001290	HP:0001290	Generalized hypotonia	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0001290	HP:0001290	Generalized hypotonia	0	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	357	2263	603646
HP:0001290	HP:0001290	Generalized hypotonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0001290	HP:0001290	Generalized hypotonia	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0001290	HP:0001290	Generalized hypotonia	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0001290	HP:0001290	Generalized hypotonia	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0001290	HP:0001290	Generalized hypotonia	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	1989	25801	614571
HP:0001290	HP:0001290	Generalized hypotonia	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1989	25801	614571
HP:0001290	HP:0001290	Generalized hypotonia	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0001290	HP:0001290	Generalized hypotonia	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001290	HP:0001290	Generalized hypotonia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0001290	HP:0001290	Generalized hypotonia	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0001290	HP:0001290	Generalized hypotonia	0	CSPP1 CL E G H	79848	397715				ORPHA	1	1074	26193	611654
HP:0001290	HP:0001290	Generalized hypotonia	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0001290	HP:0001290	Generalized hypotonia	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0001290	HP:0001290	Generalized hypotonia	0	CTBP1 CL E G H	1487	617915	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	617915	CN895589	OMIM	1	352	2494	602618
HP:0001290	HP:0001290	Generalized hypotonia	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	279	13723	604167
HP:0001290	HP:0001290	Generalized hypotonia	0	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	624	2514	116806
HP:0001290	HP:0001290	Generalized hypotonia	0	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	284	28005	617057
HP:0001290	HP:0001290	Generalized hypotonia	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	415	2555	300304
HP:0001290	HP:0001290	Generalized hypotonia	0	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	100	25613	616120
HP:0001290	HP:0001290	Generalized hypotonia	0	CYFIP2 CL E G H	26999	442835				ORPHA	1	668	13760	606323
HP:0001290	HP:0001290	Generalized hypotonia	0	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	298	2602	126065
HP:0001290	HP:0001290	Generalized hypotonia	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001290	HP:0001290	Generalized hypotonia	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001290	HP:0001290	Generalized hypotonia	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	468	28358	609186
HP:0001290	HP:0001290	Generalized hypotonia	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0001290	HP:0001290	Generalized hypotonia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	683	2698	248610
HP:0001290	HP:0001290	Generalized hypotonia	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001290	HP:0001290	Generalized hypotonia	0	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	130	29812	610534
HP:0001290	HP:0001290	Generalized hypotonia	0	DDOST CL E G H	1650	300536				ORPHA	1	253	2728	602202
HP:0001290	HP:0001290	Generalized hypotonia	0	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	253	2728	602202
HP:0001290	HP:0001290	Generalized hypotonia	0	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	339	2731	191311
HP:0001290	HP:0001290	Generalized hypotonia	0	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	203	2736	601150
HP:0001290	HP:0001290	Generalized hypotonia	0	DDX3X CL E G H	1654	457260				ORPHA	1	745	2745	300160
HP:0001290	HP:0001290	Generalized hypotonia	0	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	745	2745	300160
HP:0001290	HP:0001290	Generalized hypotonia	0	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	695	14677	602635
HP:0001290	HP:0001290	Generalized hypotonia	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001290	HP:0001290	Generalized hypotonia	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0001290	HP:0001290	Generalized hypotonia	0	DHDDS CL E G H	79947	442835				ORPHA	1	434	20603	608172
HP:0001290	HP:0001290	Generalized hypotonia	0	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	582	2861	126060
HP:0001290	HP:0001290	Generalized hypotonia	0	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	674	23537	614984
HP:0001290	HP:0001290	Generalized hypotonia	0	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	520	2898	238331
HP:0001290	HP:0001290	Generalized hypotonia	0	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	520	2898	238331
HP:0001290	HP:0001290	Generalized hypotonia	0	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	304	2902	300189
HP:0001290	HP:0001290	Generalized hypotonia	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0001290	HP:0001290	Generalized hypotonia	0	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	273	2933	605377
HP:0001290	HP:0001290	Generalized hypotonia	0	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0001290	HP:0001290	Generalized hypotonia	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	337	27030	617048
HP:0001290	HP:0001290	Generalized hypotonia	0	DNM1 CL E G H	1759	442835				ORPHA	1	765	2972	602377
HP:0001290	HP:0001290	Generalized hypotonia	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0001290	HP:0001290	Generalized hypotonia	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	591	2973	603850
HP:0001290	HP:0001290	Generalized hypotonia	0	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0001290	HP:0001290	Generalized hypotonia	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	1088	2974	602378
HP:0001290	HP:0001290	Generalized hypotonia	0	DNMT3A CL E G H	1788	615879	Tatton-Brown-rahman syndrome	615879	C4014545	OMIM	1	537	2978	602769
HP:0001290	HP:0001290	Generalized hypotonia	0	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	1080	19189	614194
HP:0001290	HP:0001290	Generalized hypotonia	0	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0001290	HP:0001290	Generalized hypotonia	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	312	2995	191350
HP:0001290	HP:0001290	Generalized hypotonia	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0001290	HP:0001290	Generalized hypotonia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0001290	HP:0001290	Generalized hypotonia	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	156	3006	603564
HP:0001290	HP:0001290	Generalized hypotonia	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001290	HP:0001290	Generalized hypotonia	0	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	288	19087	607407
HP:0001290	HP:0001290	Generalized hypotonia	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	317	3133	300205
HP:0001290	HP:0001290	Generalized hypotonia	0	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	431	3151	602292
HP:0001290	HP:0001290	Generalized hypotonia	0	EEF1A2 CL E G H	1917	442835				ORPHA	1	575	3192	602959
HP:0001290	HP:0001290	Generalized hypotonia	0	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	428	3219	604633
HP:0001290	HP:0001290	Generalized hypotonia	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	394	25789	617538
HP:0001290	HP:0001290	Generalized hypotonia	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	257	3226	300035
HP:0001290	HP:0001290	Generalized hypotonia	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0001290	HP:0001290	Generalized hypotonia	0	EHMT1 CL E G H	79813	610253	Chromosome 9q deletion syndrome	610253	C0795833	OMIM	1	1923	24650	607001
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	192	3257	606686
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	190	3258	606454
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	181	3259	606273
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	233	3260	606687
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	579	3261	603945
HP:0001290	HP:0001290	Generalized hypotonia	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	208	3267	300161
HP:0001290	HP:0001290	Generalized hypotonia	0	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001290	HP:0001290	Generalized hypotonia	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	966	3327	130160
HP:0001290	HP:0001290	Generalized hypotonia	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001290	HP:0001290	Generalized hypotonia	0	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	938	28957	616846
HP:0001290	HP:0001290	Generalized hypotonia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0001290	HP:0001290	Generalized hypotonia	0	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	1266	3373	602700
HP:0001290	HP:0001290	Generalized hypotonia	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001290	HP:0001290	Generalized hypotonia	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1645	3438	609413
HP:0001290	HP:0001290	Generalized hypotonia	0	ETHE1 CL E G H	23474	51188				ORPHA	1	338	23287	608451
HP:0001290	HP:0001290	Generalized hypotonia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	338	23287	608451
HP:0001290	HP:0001290	Generalized hypotonia	0	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001290	HP:0001290	Generalized hypotonia	0	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	260	9137	606180
HP:0001290	HP:0001290	Generalized hypotonia	0	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	668	3513	608210
HP:0001290	HP:0001290	Generalized hypotonia	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	538	3527	601573
HP:0001290	HP:0001290	Generalized hypotonia	0	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001290	HP:0001290	Generalized hypotonia	0	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001290	HP:0001290	Generalized hypotonia	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0001290	HP:0001290	Generalized hypotonia	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001290	HP:0001290	Generalized hypotonia	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0001290	HP:0001290	Generalized hypotonia	0	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001290	HP:0001290	Generalized hypotonia	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	30546	614585
HP:0001290	HP:0001290	Generalized hypotonia	0	FGF12 CL E G H	2257	442835				ORPHA	1	259	3668	601513
HP:0001290	HP:0001290	Generalized hypotonia	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0001290	HP:0001290	Generalized hypotonia	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1798	3700	136850
HP:0001290	HP:0001290	Generalized hypotonia	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	926	16873	609390
HP:0001290	HP:0001290	Generalized hypotonia	0	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0001290	HP:0001290	Generalized hypotonia	0	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0001290	HP:0001290	Generalized hypotonia	0	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0001290	HP:0001290	Generalized hypotonia	0	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0001290	HP:0001290	Generalized hypotonia	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0001290	HP:0001290	Generalized hypotonia	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0001290	HP:0001290	Generalized hypotonia	0	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0001290	HP:0001290	Generalized hypotonia	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	2185	27310	607273
HP:0001290	HP:0001290	Generalized hypotonia	0	FLVCR1 CL E G H	28982	88628				ORPHA	1	529	24682	609144
HP:0001290	HP:0001290	Generalized hypotonia	0	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	700	3823	605515
HP:0001290	HP:0001290	Generalized hypotonia	0	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	323	26927	613622
HP:0001290	HP:0001290	Generalized hypotonia	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	402	1362	604574
HP:0001290	HP:0001290	Generalized hypotonia	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0001290	HP:0001290	Generalized hypotonia	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	275	4081	137190
HP:0001290	HP:0001290	Generalized hypotonia	0	GABRB2 CL E G H	2561	442835				ORPHA	1	494	4082	600232
HP:0001290	HP:0001290	Generalized hypotonia	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	838	4083	137192
HP:0001290	HP:0001290	Generalized hypotonia	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	191	4116	606953
HP:0001290	HP:0001290	Generalized hypotonia	0	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0001290	HP:0001290	Generalized hypotonia	0	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	784	4180	607839
HP:0001290	HP:0001290	Generalized hypotonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	720	4189	608801
HP:0001290	HP:0001290	Generalized hypotonia	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	176	4208	238330
HP:0001290	HP:0001290	Generalized hypotonia	0	GDI1 CL E G H	2664	300849	X-Linked Mental Retardation 41	300849	C3887939	OMIM	1	305	4226	300104
HP:0001290	HP:0001290	Generalized hypotonia	0	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0001290	HP:0001290	Generalized hypotonia	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0001290	HP:0001290	Generalized hypotonia	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2238	4313	238300
HP:0001290	HP:0001290	Generalized hypotonia	0	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	256	4341	138290
HP:0001290	HP:0001290	Generalized hypotonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0001290	HP:0001290	Generalized hypotonia	0	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0001290	HP:0001290	Generalized hypotonia	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0001290	HP:0001290	Generalized hypotonia	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0001290	HP:0001290	Generalized hypotonia	0	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001290	HP:0001290	Generalized hypotonia	0	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	382	4396	139380
HP:0001290	HP:0001290	Generalized hypotonia	0	GNB5 CL E G H	10681	617173	Intellectual developmental disorder with cardiac arrhythmia	617173	C4310682	OMIM	1	163	4401	604447
HP:0001290	HP:0001290	Generalized hypotonia	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	947	23657	603824
HP:0001290	HP:0001290	Generalized hypotonia	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	314	4416	602744
HP:0001290	HP:0001290	Generalized hypotonia	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	989	4451	300037
HP:0001290	HP:0001290	Generalized hypotonia	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	243	4452	300168
HP:0001290	HP:0001290	Generalized hypotonia	0	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	109	18062	138210
HP:0001290	HP:0001290	Generalized hypotonia	0	GPX4 CL E G H	2879	93317				ORPHA	1	177	4556	138322
HP:0001290	HP:0001290	Generalized hypotonia	0	GPX4 CL E G H	2879	250220	Spondylometaphyseal dysplasia Sedaghatian type	250220	C1855229	OMIM	1	177	4556	138322
HP:0001290	HP:0001290	Generalized hypotonia	0	GRID2 CL E G H	2895	363432				ORPHA	1	241	4576	602368
HP:0001290	HP:0001290	Generalized hypotonia	0	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	241	4576	602368
HP:0001290	HP:0001290	Generalized hypotonia	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0001290	HP:0001290	Generalized hypotonia	0	GRIN2D CL E G H	2906	442835				ORPHA	1	823	4588	602717
HP:0001290	HP:0001290	Generalized hypotonia	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0001290	HP:0001290	Generalized hypotonia	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	147	4670	607434
HP:0001290	HP:0001290	Generalized hypotonia	0	GTPBP3 CL E G H	84705	616198	Combined oxidative phosphorylation deficiency 23	616198	C4015447	OMIM	1	466	14880	608536
HP:0001290	HP:0001290	Generalized hypotonia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	227	21033	610876
HP:0001290	HP:0001290	Generalized hypotonia	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001290	HP:0001290	Generalized hypotonia	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0001290	HP:0001290	Generalized hypotonia	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0001290	HP:0001290	Generalized hypotonia	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	858	4839	300019
HP:0001290	HP:0001290	Generalized hypotonia	0	HCN1 CL E G H	348980	442835				ORPHA	1	796	4845	602780
HP:0001290	HP:0001290	Generalized hypotonia	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	381	13315	300269
HP:0001290	HP:0001290	Generalized hypotonia	0	HEPACAM CL E G H	220296	613926	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	613926	C3151356	OMIM	1	304	26361	611642
HP:0001290	HP:0001290	Generalized hypotonia	0	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	1115	4867	605109
HP:0001290	HP:0001290	Generalized hypotonia	0	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	936	4868	605837
HP:0001290	HP:0001290	Generalized hypotonia	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0001290	HP:0001290	Generalized hypotonia	0	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	1002	4878	606869
HP:0001290	HP:0001290	Generalized hypotonia	0	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	235	4908	610690
HP:0001290	HP:0001290	Generalized hypotonia	0	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	76	26938	614908
HP:0001290	HP:0001290	Generalized hypotonia	0	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	643	4921	143054
HP:0001290	HP:0001290	Generalized hypotonia	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	885	4976	609018
HP:0001290	HP:0001290	Generalized hypotonia	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	196	5042	300610
HP:0001290	HP:0001290	Generalized hypotonia	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0001290	HP:0001290	Generalized hypotonia	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0001290	HP:0001290	Generalized hypotonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	354	5157	308000
HP:0001290	HP:0001290	Generalized hypotonia	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	256	4800	300256
HP:0001290	HP:0001290	Generalized hypotonia	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	278	5261	118190
HP:0001290	HP:0001290	Generalized hypotonia	0	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001290	HP:0001290	Generalized hypotonia	0	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1		5330	600709
HP:0001290	HP:0001290	Generalized hypotonia	0	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0001290	HP:0001290	Generalized hypotonia	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	1170	18873	606951
HP:0001290	HP:0001290	Generalized hypotonia	0	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	146	5466	147470
HP:0001290	HP:0001290	Generalized hypotonia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0001290	HP:0001290	Generalized hypotonia	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	187	33882	607875
HP:0001290	HP:0001290	Generalized hypotonia	0	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	467	6080	600829
HP:0001290	HP:0001290	Generalized hypotonia	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0001290	HP:0001290	Generalized hypotonia	0	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	1144	29059	300522
HP:0001290	HP:0001290	Generalized hypotonia	0	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	83	19857	615317
HP:0001290	HP:0001290	Generalized hypotonia	0	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0001290	HP:0001290	Generalized hypotonia	0	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0001290	HP:0001290	Generalized hypotonia	0	ITPR1 CL E G H	3708	208513				ORPHA	1	1563	6180	147265
HP:0001290	HP:0001290	Generalized hypotonia	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0001290	HP:0001290	Generalized hypotonia	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	1003	17582	605880
HP:0001290	HP:0001290	Generalized hypotonia	0	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	1003	17582	605880
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNA2 CL E G H	3737	442835				ORPHA	1	401	6220	176262
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNB1 CL E G H	3745	442835				ORPHA	1	635	6231	600397
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNC3 CL E G H	3748	98768				ORPHA	1	311	6235	176264
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	311	6235	176264
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	566	6250	603305
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	566	6250	603305
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	381	6256	602208
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1962	6296	602235
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	2000	18865	608167
HP:0001290	HP:0001290	Generalized hypotonia	0	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	1	230	29079	609132
HP:0001290	HP:0001290	Generalized hypotonia	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0001290	HP:0001290	Generalized hypotonia	0	KIAA0586 CL E G H	9786	397715				ORPHA	1	1253	19960	610178
HP:0001290	HP:0001290	Generalized hypotonia	0	KIAA0586 CL E G H	9786	616546	Short-rib thoracic dysplasia 14 with polydactyly	616546	C4225286	OMIM	1	1253	19960	610178
HP:0001290	HP:0001290	Generalized hypotonia	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	387	29110	617112
HP:0001290	HP:0001290	Generalized hypotonia	0	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1		26953	611565
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2622	888	601255
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	513	6391	603213
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF7 CL E G H	374654	2754				ORPHA	1	1401	30497	611254
HP:0001290	HP:0001290	Generalized hypotonia	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	2073	7132	159555
HP:0001290	HP:0001290	Generalized hypotonia	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0001290	HP:0001290	Generalized hypotonia	0	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	161	6404	615620
HP:0001290	HP:0001290	Generalized hypotonia	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0001290	HP:0001290	Generalized hypotonia	0	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	767	6486	150240
HP:0001290	HP:0001290	Generalized hypotonia	0	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	915	6487	150325
HP:0001290	HP:0001290	Generalized hypotonia	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0001290	HP:0001290	Generalized hypotonia	0	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0001290	HP:0001290	Generalized hypotonia	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0001290	HP:0001290	Generalized hypotonia	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0001290	HP:0001290	Generalized hypotonia	0	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001290	HP:0001290	Generalized hypotonia	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	945	6597	151443
HP:0001290	HP:0001290	Generalized hypotonia	0	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001290	HP:0001290	Generalized hypotonia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	276	23038	612625
HP:0001290	HP:0001290	Generalized hypotonia	0	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0001290	HP:0001290	Generalized hypotonia	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1819	6697	603506
HP:0001290	HP:0001290	Generalized hypotonia	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	1479	15714	607544
HP:0001290	HP:0001290	Generalized hypotonia	0	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	773	6717	604710
HP:0001290	HP:0001290	Generalized hypotonia	0	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0001290	HP:0001290	Generalized hypotonia	0	MAG CL E G H	4099	459056				ORPHA	1	272	6783	159460
HP:0001290	HP:0001290	Generalized hypotonia	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0001290	HP:0001290	Generalized hypotonia	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001290	HP:0001290	Generalized hypotonia	0	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	1	485	6831	609489
HP:0001290	HP:0001290	Generalized hypotonia	0	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0001290	HP:0001290	Generalized hypotonia	0	MAPRE2 CL E G H	10982	616734	Skin creases, congenital symmetric circumferential, 2	616734	C4225225	OMIM	1	73	6891	605789
HP:0001290	HP:0001290	Generalized hypotonia	0	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	204	25133	609728
HP:0001290	HP:0001290	Generalized hypotonia	0	MBOAT7 CL E G H	79143	617188	Mental retardation, autosomal recessive 57	617188	C4310673	OMIM	1	113	15505	606048
HP:0001290	HP:0001290	Generalized hypotonia	0	MCCC1 CL E G H	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	210200	CN028786	OMIM	1	720	6936	609010
HP:0001290	HP:0001290	Generalized hypotonia	0	MCCC2 CL E G H	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	210210	C1859499	OMIM	1	644	6937	609014
HP:0001290	HP:0001290	Generalized hypotonia	0	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0001290	HP:0001290	Generalized hypotonia	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001290	HP:0001290	Generalized hypotonia	0	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1573	11957	300188
HP:0001290	HP:0001290	Generalized hypotonia	0	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	1047	22962	608771
HP:0001290	HP:0001290	Generalized hypotonia	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0001290	HP:0001290	Generalized hypotonia	0	MEF2C CL E G H	4208	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	613443	C3150700	OMIM	1	515	6996	600662
HP:0001290	HP:0001290	Generalized hypotonia	0	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	147	25897	614397
HP:0001290	HP:0001290	Generalized hypotonia	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	148	7045	602616
HP:0001290	HP:0001290	Generalized hypotonia	0	MIPEP CL E G H	4285	617228	Combined oxidative phosphorylation deficiency 31	617228	C4310661	OMIM	1	264	7104	602241
HP:0001290	HP:0001290	Generalized hypotonia	0	MITF CL E G H	4286	617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	617306	C4310625	OMIM	1	539	7105	156845
HP:0001290	HP:0001290	Generalized hypotonia	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0001290	HP:0001290	Generalized hypotonia	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0001290	HP:0001290	Generalized hypotonia	0	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	839	7121	609883
HP:0001290	HP:0001290	Generalized hypotonia	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	248	12744	605678
HP:0001290	HP:0001290	Generalized hypotonia	0	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	482	7150	606761
HP:0001290	HP:0001290	Generalized hypotonia	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0001290	HP:0001290	Generalized hypotonia	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0001290	HP:0001290	Generalized hypotonia	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0001290	HP:0001290	Generalized hypotonia	0	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	282	25221	611935
HP:0001290	HP:0001290	Generalized hypotonia	0	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1	896	7526	609058
HP:0001290	HP:0001290	Generalized hypotonia	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	473	24862	601336
HP:0001290	HP:0001290	Generalized hypotonia	0	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0001290	HP:0001290	Generalized hypotonia	0	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	21606	614738
HP:0001290	HP:0001290	Generalized hypotonia	0	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	125	7207	604041
HP:0001290	HP:0001290	Generalized hypotonia	0	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	398	7216	154550
HP:0001290	HP:0001290	Generalized hypotonia	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0001290	HP:0001290	Generalized hypotonia	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0001290	HP:0001290	Generalized hypotonia	0	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0001290	HP:0001290	Generalized hypotonia	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001290	HP:0001290	Generalized hypotonia	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0001290	HP:0001290	Generalized hypotonia	0	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0001290	HP:0001290	Generalized hypotonia	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0001290	HP:0001290	Generalized hypotonia	0	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0001290	HP:0001290	Generalized hypotonia	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0001290	HP:0001290	Generalized hypotonia	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0001290	HP:0001290	Generalized hypotonia	0	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0001290	HP:0001290	Generalized hypotonia	0	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0001290	HP:0001290	Generalized hypotonia	0	MTO1 CL E G H	25821	614702	Combined oxidative phosphorylation deficiency 10	614702	C3553529	OMIM	1	638	19261	614667
HP:0001290	HP:0001290	Generalized hypotonia	0	MTOR CL E G H	2475	616638	Smith-Kingsmore syndrome	616638	C4225259	OMIM	1	2134	3942	601231
HP:0001290	HP:0001290	Generalized hypotonia	0	MTR CL E G H	4548	250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	250940	C1855128	OMIM	1	899	7468	156570
HP:0001290	HP:0001290	Generalized hypotonia	0	MTRR CL E G H	4552	236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	236270	C1856057	OMIM	1	872	7473	602568
HP:0001290	HP:0001290	Generalized hypotonia	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	570	7530	251170
HP:0001290	HP:0001290	Generalized hypotonia	0	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0001290	HP:0001290	Generalized hypotonia	0	MYH7 CL E G H	4625	324604				ORPHA	1	4106	7577	160760
HP:0001290	HP:0001290	Generalized hypotonia	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001290	HP:0001290	Generalized hypotonia	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0001290	HP:0001290	Generalized hypotonia	0	MYO5A CL E G H	4644	79476				ORPHA	1	337	7602	160777
HP:0001290	HP:0001290	Generalized hypotonia	0	MYO5A CL E G H	4644	214450	Griscelli syndrome type 1	214450	C1859194	OMIM	1	337	7602	160777
HP:0001290	HP:0001290	Generalized hypotonia	0	NAA10 CL E G H	8260	276432				ORPHA	1	401	18704	300013
HP:0001290	HP:0001290	Generalized hypotonia	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001290	HP:0001290	Generalized hypotonia	0	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0001290	HP:0001290	Generalized hypotonia	0	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	230	7631	104170
HP:0001290	HP:0001290	Generalized hypotonia	0	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	877	19082	611549
HP:0001290	HP:0001290	Generalized hypotonia	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	180	19237	605202
HP:0001290	HP:0001290	Generalized hypotonia	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0001290	HP:0001290	Generalized hypotonia	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	167	26742	610647
HP:0001290	HP:0001290	Generalized hypotonia	0	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	146	18453	608862
HP:0001290	HP:0001290	Generalized hypotonia	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0001290	HP:0001290	Generalized hypotonia	0	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	92	23987	614530
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	281	28625	612392
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001290	HP:0001290	Generalized hypotonia	0	NDUFV2 CL E G H	4729	618229	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229		OMIM	1	229	7717	600532
HP:0001290	HP:0001290	Generalized hypotonia	0	NECAP1 CL E G H	25977	442835				ORPHA	1	221	24539	611623
HP:0001290	HP:0001290	Generalized hypotonia	0	NECAP1 CL E G H	25977	615833	Early infantile epileptic encephalopathy 21	615833	C4014430	OMIM	1	221	24539	611623
HP:0001290	HP:0001290	Generalized hypotonia	0	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	185	7758	608272
HP:0001290	HP:0001290	Generalized hypotonia	0	NFIA CL E G H	4774	613735	Brain malformations and urinary tract defects	613735	C3151036	OMIM	1	275	7784	600727
HP:0001290	HP:0001290	Generalized hypotonia	0	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	348	7788	164005
HP:0001290	HP:0001290	Generalized hypotonia	0	NFIX CL E G H	4784	614753	Sotos syndrome 2	614753	C3553660	OMIM	1	348	7788	164005
HP:0001290	HP:0001290	Generalized hypotonia	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0001290	HP:0001290	Generalized hypotonia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	317	11825	600635
HP:0001290	HP:0001290	Generalized hypotonia	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	233	19321	605955
HP:0001290	HP:0001290	Generalized hypotonia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	243	7871	300084
HP:0001290	HP:0001290	Generalized hypotonia	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0001290	HP:0001290	Generalized hypotonia	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0001290	HP:0001290	Generalized hypotonia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0001290	HP:0001290	Generalized hypotonia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0001290	HP:0001290	Generalized hypotonia	0	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	815	7905	607100
HP:0001290	HP:0001290	Generalized hypotonia	0	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	1	281	7989	164790
HP:0001290	HP:0001290	Generalized hypotonia	0	NRXN1 CL E G H	9378	614325	Pitt-Hopkins-like syndrome 2	614325	C3280479	OMIM	1	2065	8008	600565
HP:0001290	HP:0001290	Generalized hypotonia	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0001290	HP:0001290	Generalized hypotonia	0	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	368	13398	300275
HP:0001290	HP:0001290	Generalized hypotonia	0	NTRK2 CL E G H	4915	442835				ORPHA	1	509	8032	600456
HP:0001290	HP:0001290	Generalized hypotonia	0	NUS1 CL E G H	116150	442835				ORPHA	1	326	21042	610463
HP:0001290	HP:0001290	Generalized hypotonia	0	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	326	21042	610463
HP:0001290	HP:0001290	Generalized hypotonia	0	OFD1 CL E G H	8481	2754				ORPHA	1	1020	2567	300170
HP:0001290	HP:0001290	Generalized hypotonia	0	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	1020	2567	300170
HP:0001290	HP:0001290	Generalized hypotonia	0	OGDH CL E G H	4967	203740	Alpha-ketoglutarate dehydrogenase deficiency	203740	C2752074	OMIM	1	171	8124	613022
HP:0001290	HP:0001290	Generalized hypotonia	0	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	475	8148	300127
HP:0001290	HP:0001290	Generalized hypotonia	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	152	18028	610107
HP:0001290	HP:0001290	Generalized hypotonia	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	271	21652	607649
HP:0001290	HP:0001290	Generalized hypotonia	0	OTUD6B CL E G H	51633	505237				ORPHA	1	89	24281	612021
HP:0001290	HP:0001290	Generalized hypotonia	0	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	89	24281	612021
HP:0001290	HP:0001290	Generalized hypotonia	0	OTX2 CL E G H	5015	610125	Microphthalmia syndromic 5	610125	C1864690	OMIM	1	231	8522	600037
HP:0001290	HP:0001290	Generalized hypotonia	0	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0001290	HP:0001290	Generalized hypotonia	0	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001290	HP:0001290	Generalized hypotonia	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0001290	HP:0001290	Generalized hypotonia	0	PCBD1 CL E G H	5092	264070	Hyperphenylalaninemia, BH4-deficient, D	264070	C1849700	OMIM	1	91	8646	126090
HP:0001290	HP:0001290	Generalized hypotonia	0	PDE6D CL E G H	5147	2754				ORPHA	1	89	8788	602676
HP:0001290	HP:0001290	Generalized hypotonia	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0001290	HP:0001290	Generalized hypotonia	0	PDHB CL E G H	5162	614111	Pyruvate dehydrogenase E1-beta deficiency	614111	C3279841	OMIM	1	281	8808	179060
HP:0001290	HP:0001290	Generalized hypotonia	0	PDP1 CL E G H	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	608782	C1837429	OMIM	1	185	9279	605993
HP:0001290	HP:0001290	Generalized hypotonia	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	803	8851	602859
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	459	8854	601758
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	497	8855	601789
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	474	8856	601791
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	470	8857	603360
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	358	8858	603164
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX3 CL E G H	8504	617370	Peroxisome biogenesis disorder 10b	617370	C4479254	OMIM	1	358	8858	603164
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1458	8859	601498
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0001290	HP:0001290	Generalized hypotonia	0	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	1	112	17893	615187
HP:0001290	HP:0001290	Generalized hypotonia	0	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	1	169	23719	611801
HP:0001290	HP:0001290	Generalized hypotonia	0	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	359	8907	172100
HP:0001290	HP:0001290	Generalized hypotonia	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0001290	HP:0001290	Generalized hypotonia	0	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HP:0001290	HP:0001290	Generalized hypotonia	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001290	HP:0001290	Generalized hypotonia	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	1057	25985	616918
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	156	8966	605947
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	1010	8967	606097
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	277	14938	610272
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	304	26031	610274
HP:0001290	HP:0001290	Generalized hypotonia	0	PIK3CA CL E G H	5290	602501	Megalencephaly cutis marmorata telangiectatica congenita	602501	C1865285	OMIM	1	1159	8975	171834
HP:0001290	HP:0001290	Generalized hypotonia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	775	9039	603604
HP:0001290	HP:0001290	Generalized hypotonia	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	931	9081	153454
HP:0001290	HP:0001290	Generalized hypotonia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	451	9086	300401
HP:0001290	HP:0001290	Generalized hypotonia	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0001290	HP:0001290	Generalized hypotonia	0	PMP22 CL E G H	5376	98916				ORPHA	1	492	9118	601097
HP:0001290	HP:0001290	Generalized hypotonia	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0001290	HP:0001290	Generalized hypotonia	0	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	205	18667	613036
HP:0001290	HP:0001290	Generalized hypotonia	0	PNKP CL E G H	11284	613402	Early infantile epileptic encephalopathy 10	613402	C3150667	OMIM	1	1028	9154	605610
HP:0001290	HP:0001290	Generalized hypotonia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	258	7892	164050
HP:0001290	HP:0001290	Generalized hypotonia	0	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0001290	HP:0001290	Generalized hypotonia	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0001290	HP:0001290	Generalized hypotonia	0	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	271	28900	612123
HP:0001290	HP:0001290	Generalized hypotonia	0	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	611	18801	614787
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0001290	HP:0001290	Generalized hypotonia	0	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	1025	30074	614258
HP:0001290	HP:0001290	Generalized hypotonia	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0001290	HP:0001290	Generalized hypotonia	0	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0001290	HP:0001290	Generalized hypotonia	0	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0001290	HP:0001290	Generalized hypotonia	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0001290	HP:0001290	Generalized hypotonia	0	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0001290	HP:0001290	Generalized hypotonia	0	PPM1D CL E G H	8493	617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	617450	C4479517	OMIM	1	230	9277	605100
HP:0001290	HP:0001290	Generalized hypotonia	0	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	1	215	9282	600590
HP:0001290	HP:0001290	Generalized hypotonia	0	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	358	9302	605983
HP:0001290	HP:0001290	Generalized hypotonia	0	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	397	9312	601646
HP:0001290	HP:0001290	Generalized hypotonia	0	PPP3CA CL E G H	5530	442835				ORPHA	1	351	9314	114105
HP:0001290	HP:0001290	Generalized hypotonia	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0001290	HP:0001290	Generalized hypotonia	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0001290	HP:0001290	Generalized hypotonia	0	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0001290	HP:0001290	Generalized hypotonia	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0001290	HP:0001290	Generalized hypotonia	0	PRKCG CL E G H	5582	98763				ORPHA	1	323	9402	176980
HP:0001290	HP:0001290	Generalized hypotonia	0	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	148	9407	605435
HP:0001290	HP:0001290	Generalized hypotonia	0	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	215	25557	610087
HP:0001290	HP:0001290	Generalized hypotonia	0	PRODH CL E G H	5625	239500	Proline dehydrogenase deficiency	239500	C0268529	OMIM	1	778	9453	606810
HP:0001290	HP:0001290	Generalized hypotonia	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	415	9462	311850
HP:0001290	HP:0001290	Generalized hypotonia	0	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	105	13420	617413
HP:0001290	HP:0001290	Generalized hypotonia	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0001290	HP:0001290	Generalized hypotonia	0	PSAP CL E G H	5660	309263				ORPHA	1	772	9498	176801
HP:0001290	HP:0001290	Generalized hypotonia	0	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0001290	HP:0001290	Generalized hypotonia	0	PSAP CL E G H	5660	309256				ORPHA	1	772	9498	176801
HP:0001290	HP:0001290	Generalized hypotonia	0	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0001290	HP:0001290	Generalized hypotonia	0	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	772	9498	176801
HP:0001290	HP:0001290	Generalized hypotonia	0	PTDSS1 CL E G H	9791	151050	Lenz-Majewski hyperostosis syndrome	151050	C0432269	OMIM	1	190	9587	612792
HP:0001290	HP:0001290	Generalized hypotonia	0	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0001290	HP:0001290	Generalized hypotonia	0	PUS3 CL E G H	83480	617051	Mental retardation, autosomal recessive 55	617051	C4310745	OMIM	1	304	25461	616283
HP:0001290	HP:0001290	Generalized hypotonia	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0001290	HP:0001290	Generalized hypotonia	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0001290	HP:0001290	Generalized hypotonia	0	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0001290	HP:0001290	Generalized hypotonia	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0001290	HP:0001290	Generalized hypotonia	0	RAC1 CL E G H	5879	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	617751	C4540321	OMIM	1	112	9801	602048
HP:0001290	HP:0001290	Generalized hypotonia	0	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1608	9834	607642
HP:0001290	HP:0001290	Generalized hypotonia	0	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	641	21406	611524
HP:0001290	HP:0001290	Generalized hypotonia	0	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	333	9896	300080
HP:0001290	HP:0001290	Generalized hypotonia	0	RERE CL E G H	473	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	C4310772	OMIM	1	659	9965	605226
HP:0001290	HP:0001290	Generalized hypotonia	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0001290	HP:0001290	Generalized hypotonia	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	523	25964	613114
HP:0001290	HP:0001290	Generalized hypotonia	0	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	505	30220	611908
HP:0001290	HP:0001290	Generalized hypotonia	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001290	HP:0001290	Generalized hypotonia	0	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	307	24116	610330
HP:0001290	HP:0001290	Generalized hypotonia	0	RNF125 CL E G H	54941	616260	Tenorio syndrome	616260	C4015710	OMIM	1	107	21150	610432
HP:0001290	HP:0001290	Generalized hypotonia	0	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	261	34016	601428
HP:0001290	HP:0001290	Generalized hypotonia	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001290	HP:0001290	Generalized hypotonia	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0001290	HP:0001290	Generalized hypotonia	0	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	18	10410	603683
HP:0001290	HP:0001290	Generalized hypotonia	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	515	10432	300075
HP:0001290	HP:0001290	Generalized hypotonia	0	RPS6KA3 CL E G H	6197	300844	Mental retardation, X-linked 19	300844	C0796225	OMIM	1	515	10432	300075
HP:0001290	HP:0001290	Generalized hypotonia	0	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0001290	HP:0001290	Generalized hypotonia	0	RYR1 CL E G H	6261	169186				ORPHA	1	6164	10483	180901
HP:0001290	HP:0001290	Generalized hypotonia	0	RYR1 CL E G H	6261	324581				ORPHA	1	6164	10483	180901
HP:0001290	HP:0001290	Generalized hypotonia	0	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0001290	HP:0001290	Generalized hypotonia	0	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0001290	HP:0001290	Generalized hypotonia	0	SARS2 CL E G H	54938	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	613845	C3151209	OMIM	1	256	17697	612804
HP:0001290	HP:0001290	Generalized hypotonia	0	SBDS CL E G H	51119	811	Balo disease			ORPHA	1	119	19440	607444
HP:0001290	HP:0001290	Generalized hypotonia	0	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	1	242	10547	602286
HP:0001290	HP:0001290	Generalized hypotonia	0	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	511	10586	600235
HP:0001290	HP:0001290	Generalized hypotonia	0	SCN3A CL E G H	6328	442835				ORPHA	1	1420	10590	182391
HP:0001290	HP:0001290	Generalized hypotonia	0	SCN8A CL E G H	6334	442835				ORPHA	1	1799	10596	600702
HP:0001290	HP:0001290	Generalized hypotonia	0	SCN8A CL E G H	6334	614558	Early infantile epileptic encephalopathy 13	614558	C3281191	OMIM	1	1799	10596	600702
HP:0001290	HP:0001290	Generalized hypotonia	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2254	10597	603415
HP:0001290	HP:0001290	Generalized hypotonia	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0001290	HP:0001290	Generalized hypotonia	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	701	10604	604272
HP:0001290	HP:0001290	Generalized hypotonia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0001290	HP:0001290	Generalized hypotonia	0	SELENON CL E G H	57190	324604				ORPHA	1	651	15999	606210
HP:0001290	HP:0001290	Generalized hypotonia	0	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0001290	HP:0001290	Generalized hypotonia	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0001290	HP:0001290	Generalized hypotonia	0	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0001290	HP:0001290	Generalized hypotonia	0	SERPINH1 CL E G H	871	613848	Osteogenesis imperfecta type 10	613848	C3151211	OMIM	1	214	1546	600943
HP:0001290	HP:0001290	Generalized hypotonia	0	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	114	10760	600960
HP:0001290	HP:0001290	Generalized hypotonia	0	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	1013	18420	612778
HP:0001290	HP:0001290	Generalized hypotonia	0	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	179	16088	615564
HP:0001290	HP:0001290	Generalized hypotonia	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0001290	HP:0001290	Generalized hypotonia	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0001290	HP:0001290	Generalized hypotonia	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0001290	HP:0001290	Generalized hypotonia	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001290	HP:0001290	Generalized hypotonia	0	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	183	10889	603714
HP:0001290	HP:0001290	Generalized hypotonia	0	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	128	10892	606326
HP:0001290	HP:0001290	Generalized hypotonia	0	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	1	1062	10896	164780
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC13A5 CL E G H	284111	442835				ORPHA	1	685	23089	608305
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	685	23089	608305
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC1A2 CL E G H	6506	442835				ORPHA	1	359	10940	600300
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	1	266	10941	600111
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	123	20662	608744
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A4 CL E G H	291	617184	Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant	617184	C4310676	OMIM	1	333	10990	103220
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	1	385	25198	610826
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	571	13444	606145
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	213	95	603690
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	429	11022	314375
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC35A3 CL E G H	23443	615553	Arthrogryposis, mental retardation, and seizures	615553	C3809910	OMIM	1	241	11023	605632
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	1	298	20197	605881
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC39A8 CL E G H	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	616721	C4225234	OMIM	1	181	20862	608732
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC45A1 CL E G H	50651	617532	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	617532	C4479636	OMIM	1	134	17939	605763
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	520	30224	607882
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0001290	HP:0001290	Generalized hypotonia	0	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	1	4979	11100	603254
HP:0001290	HP:0001290	Generalized hypotonia	0	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	1043	11103	601607
HP:0001290	HP:0001290	Generalized hypotonia	0	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001290	HP:0001290	Generalized hypotonia	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0001290	HP:0001290	Generalized hypotonia	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	294	11123	300105
HP:0001290	HP:0001290	Generalized hypotonia	0	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	183	30587	608241
HP:0001290	HP:0001290	Generalized hypotonia	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0001290	HP:0001290	Generalized hypotonia	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0001290	HP:0001290	Generalized hypotonia	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0001290	HP:0001290	Generalized hypotonia	0	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	270	14977	616105
HP:0001290	HP:0001290	Generalized hypotonia	0	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	1031	11183	182465
HP:0001290	HP:0001290	Generalized hypotonia	0	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	211	11195	184429
HP:0001290	HP:0001290	Generalized hypotonia	0	SOX5 CL E G H	6660	616803	Lamb-shaffer syndrome	616803	C4225202	OMIM	1	264	11201	604975
HP:0001290	HP:0001290	Generalized hypotonia	0	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	363	11204	608160
HP:0001290	HP:0001290	Generalized hypotonia	0	SPART CL E G H	23111	101000				ORPHA	1	353	18514	607111
HP:0001290	HP:0001290	Generalized hypotonia	0	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	309	29022	614140
HP:0001290	HP:0001290	Generalized hypotonia	0	SPEG CL E G H	10290	169186				ORPHA	1	1482	16901	615950
HP:0001290	HP:0001290	Generalized hypotonia	0	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0001290	HP:0001290	Generalized hypotonia	0	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0001290	HP:0001290	Generalized hypotonia	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	2267	11273	182810
HP:0001290	HP:0001290	Generalized hypotonia	0	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	236	25812	611715
HP:0001290	HP:0001290	Generalized hypotonia	0	SRP54 CL E G H	6729	811	Balo disease			ORPHA	1	204	11301	604857
HP:0001290	HP:0001290	Generalized hypotonia	0	SSR4 CL E G H	6748	370927				ORPHA	1	319	11326	300090
HP:0001290	HP:0001290	Generalized hypotonia	0	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	319	11326	300090
HP:0001290	HP:0001290	Generalized hypotonia	0	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	340	10866	606494
HP:0001290	HP:0001290	Generalized hypotonia	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0001290	HP:0001290	Generalized hypotonia	0	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	373	10872	604402
HP:0001290	HP:0001290	Generalized hypotonia	0	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0001290	HP:0001290	Generalized hypotonia	0	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	294	30650	610745
HP:0001290	HP:0001290	Generalized hypotonia	0	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0001290	HP:0001290	Generalized hypotonia	0	STT3A CL E G H	3703	370921				ORPHA	1	232	6172	601134
HP:0001290	HP:0001290	Generalized hypotonia	0	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	232	6172	601134
HP:0001290	HP:0001290	Generalized hypotonia	0	STT3B CL E G H	201595	370924				ORPHA	1	158	30611	608605
HP:0001290	HP:0001290	Generalized hypotonia	0	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	158	30611	608605
HP:0001290	HP:0001290	Generalized hypotonia	0	STXBP1 CL E G H	6812	442835				ORPHA	1	1017	11444	602926
HP:0001290	HP:0001290	Generalized hypotonia	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0001290	HP:0001290	Generalized hypotonia	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0001290	HP:0001290	Generalized hypotonia	0	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	353	11460	606887
HP:0001290	HP:0001290	Generalized hypotonia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0001290	HP:0001290	Generalized hypotonia	0	SYNGAP1 CL E G H	8831	442835				ORPHA	1	1335	11497	603384
HP:0001290	HP:0001290	Generalized hypotonia	0	SYNGAP1 CL E G H	8831	612621	Mental retardation, autosomal dominant 5	612621	C2675473	OMIM	1	1335	11497	603384
HP:0001290	HP:0001290	Generalized hypotonia	0	SYNJ1 CL E G H	8867	442835				ORPHA	1	1315	11503	604297
HP:0001290	HP:0001290	Generalized hypotonia	0	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	1315	11503	604297
HP:0001290	HP:0001290	Generalized hypotonia	0	SZT2 CL E G H	23334	442835				ORPHA	1	2862	29040	615463
HP:0001290	HP:0001290	Generalized hypotonia	0	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0001290	HP:0001290	Generalized hypotonia	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0001290	HP:0001290	Generalized hypotonia	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0001290	HP:0001290	Generalized hypotonia	0	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	241	30740	612805
HP:0001290	HP:0001290	Generalized hypotonia	0	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	90	25622	617687
HP:0001290	HP:0001290	Generalized hypotonia	0	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	893	29203	613577
HP:0001290	HP:0001290	Generalized hypotonia	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	893	29203	613577
HP:0001290	HP:0001290	Generalized hypotonia	0	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0001290	HP:0001290	Generalized hypotonia	0	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	1069	11634	602272
HP:0001290	HP:0001290	Generalized hypotonia	0	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	622	25774	613846
HP:0001290	HP:0001290	Generalized hypotonia	0	TCTN3 CL E G H	26123	2754				ORPHA	1	473	24519	613847
HP:0001290	HP:0001290	Generalized hypotonia	0	TDP2 CL E G H	51567	616949	Spinocerebellar ataxia, autosomal recessive 23	616949	C4310780	OMIM	1	55	17768	605764
HP:0001290	HP:0001290	Generalized hypotonia	0	TECPR2 CL E G H	9895	320385				ORPHA	1	1137	19957	615000
HP:0001290	HP:0001290	Generalized hypotonia	0	TECPR2 CL E G H	9895	615031	Spastic paraplegia 49, autosomal recessive	615031	C3542549	OMIM	1	1137	19957	615000
HP:0001290	HP:0001290	Generalized hypotonia	0	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	405	29099	611140
HP:0001290	HP:0001290	Generalized hypotonia	0	THOC2 CL E G H	57187	300957	Mental retardation, X-linked 12	300957	C0796218	OMIM	1	337	19073	300395
HP:0001290	HP:0001290	Generalized hypotonia	0	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0001290	HP:0001290	Generalized hypotonia	0	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0001290	HP:0001290	Generalized hypotonia	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	128	22407	613413
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	175	30760	614726
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM216 CL E G H	51259	2754				ORPHA	1	236	25018	613277
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	928	28396	609884
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HP:0001290	HP:0001290	Generalized hypotonia	0	TNFRSF11A CL E G H	8792	612301	Osteopetrosis autosomal recessive 7	612301	C2676766	OMIM	1	572	11908	603499
HP:0001290	HP:0001290	Generalized hypotonia	0	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	272	15954	613931
HP:0001290	HP:0001290	Generalized hypotonia	0	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	220	3098	605204
HP:0001290	HP:0001290	Generalized hypotonia	0	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0001290	HP:0001290	Generalized hypotonia	0	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	318	17358	606370
HP:0001290	HP:0001290	Generalized hypotonia	0	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	341	12011	190990
HP:0001290	HP:0001290	Generalized hypotonia	0	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0001290	HP:0001290	Generalized hypotonia	0	TRAK1 CL E G H	22906	442835				ORPHA	1	208	29947	608112
HP:0001290	HP:0001290	Generalized hypotonia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0001290	HP:0001290	Generalized hypotonia	0	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001290	HP:0001290	Generalized hypotonia	0	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0001290	HP:0001290	Generalized hypotonia	0	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HP:0001290	HP:0001290	Generalized hypotonia	0	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0001290	HP:0001290	Generalized hypotonia	0	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	54	26022	615423
HP:0001290	HP:0001290	Generalized hypotonia	0	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	220	23141	611023
HP:0001290	HP:0001290	Generalized hypotonia	0	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0001290	HP:0001290	Generalized hypotonia	0	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0001290	HP:0001290	Generalized hypotonia	0	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	1	620	17341	612907
HP:0001290	HP:0001290	Generalized hypotonia	0	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	542	12340	604386
HP:0001290	HP:0001290	Generalized hypotonia	0	TSEN15 CL E G H	116461	617026	Pontocerebellar hypoplasia, type 2f	617026	C4310757	OMIM	1	65	16791	608756
HP:0001290	HP:0001290	Generalized hypotonia	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0001290	HP:0001290	Generalized hypotonia	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001290	HP:0001290	Generalized hypotonia	0	TSHB CL E G H	7252	275100	Secondary hypothyroidism	275100	C0271789	OMIM	1	35	12372	188540
HP:0001290	HP:0001290	Generalized hypotonia	0	TTN CL E G H	7273	324604				ORPHA	1	27503	12403	188840
HP:0001290	HP:0001290	Generalized hypotonia	0	TTN CL E G H	7273	169186				ORPHA	1	27503	12403	188840
HP:0001290	HP:0001290	Generalized hypotonia	0	TUBA1A CL E G H	7846	611603	Lissencephaly 3	611603	C1969029	OMIM	1	325	20766	602529
HP:0001290	HP:0001290	Generalized hypotonia	0	TUBB2A CL E G H	7280	615763	Cortical dysplasia, complex, with other brain malformations 5	615763	C3810407	OMIM	1	298	12412	615101
HP:0001290	HP:0001290	Generalized hypotonia	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0001290	HP:0001290	Generalized hypotonia	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0001290	HP:0001290	Generalized hypotonia	0	UBA5 CL E G H	79876	442835				ORPHA	1	223	23230	610552
HP:0001290	HP:0001290	Generalized hypotonia	0	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0001290	HP:0001290	Generalized hypotonia	0	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	1108	12496	601623
HP:0001290	HP:0001290	Generalized hypotonia	0	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	1	316	13478	608047
HP:0001290	HP:0001290	Generalized hypotonia	0	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0001290	HP:0001290	Generalized hypotonia	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0001290	HP:0001290	Generalized hypotonia	0	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001290	HP:0001290	Generalized hypotonia	0	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	102	29594	612080
HP:0001290	HP:0001290	Generalized hypotonia	0	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0001290	HP:0001290	Generalized hypotonia	0	USP9X CL E G H	8239	300919	Mental retardation, X-linked 99	300919	C3806746	OMIM	1	776	12632	300072
HP:0001290	HP:0001290	Generalized hypotonia	0	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	1	438	21642	612802
HP:0001290	HP:0001290	Generalized hypotonia	0	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001290	HP:0001290	Generalized hypotonia	0	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001290	HP:0001290	Generalized hypotonia	0	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	575	12698	192977
HP:0001290	HP:0001290	Generalized hypotonia	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0001290	HP:0001290	Generalized hypotonia	0	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001290	HP:0001290	Generalized hypotonia	0	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	461	12718	602168
HP:0001290	HP:0001290	Generalized hypotonia	0	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	276	17327	615049
HP:0001290	HP:0001290	Generalized hypotonia	0	WASHC5 CL E G H	9897	220210	Dandy-Walker like malformation with atrioventricular septal defect	220210	C0796137	OMIM	1	638	28984	610657
HP:0001290	HP:0001290	Generalized hypotonia	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0001290	HP:0001290	Generalized hypotonia	0	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1716	14540	605232
HP:0001290	HP:0001290	Generalized hypotonia	0	WWOX CL E G H	51741	442835				ORPHA	1	1102	12799	605131
HP:0001290	HP:0001290	Generalized hypotonia	0	YWHAG CL E G H	7532	442835				ORPHA	1	189	12852	605356
HP:0001290	HP:0001290	Generalized hypotonia	0	ZBTB18 CL E G H	10472	612337	Mental retardation, autosomal dominant 22	612337	C2676727	OMIM	1	282	13030	608433
HP:0001290	HP:0001290	Generalized hypotonia	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0001290	HP:0001290	Generalized hypotonia	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0001290	HP:0001290	Generalized hypotonia	0	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0001290	HP:0001290	Generalized hypotonia	0	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	1	129	12872	600470
HP:0001290	HP:0001290	Generalized hypotonia	0	ZNF148 CL E G H	7707	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	617260	C4310644	OMIM	1	86	12933	601897
HP:0001290	HP:0001290	Generalized hypotonia	0	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	136	12309	604500
HP:0001290	HP:0001290	Generalized hypotonia	0	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	659	29316	615951
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AARS CL E G H	16	442835				ORPHA	1		20	601065
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AARS CL E G H	16	442835				ORPHA	1		20	601065
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ABCD4 CL E G H	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	614857	C3553915	OMIM	1	402	68	603214
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACACA CL E G H	31	613933	Acetyl-CoA: carboxylase deficiency	613933	C0268603	OMIM	1	307	84	200350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACAD9 CL E G H	28976	99901				ORPHA	1	771	21497	611103
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACAD9 CL E G H	28976	99901				ORPHA	1	771	21497	611103
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACADL CL E G H	33	99900				ORPHA	1	62	88	609576
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACADL CL E G H	33	99900				ORPHA	1	62	88	609576
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	749	89	607008
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	749	89	607008
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	406	90	606885
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	337	91	600301
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	337	91	600301
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1594	92	609575
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1594	92	609575
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACAT2 CL E G H	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	614055	C0342735	OMIM	1	56	94	100678
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACO2 CL E G H	50	614559	Infantile cerebellar-retinal degeneration	614559	C3281192	OMIM	1	681	118	100850
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	44	123	171650
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	44	123	171650
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACTA1 CL E G H	58	97244				ORPHA	1	506	129	102610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	153	177	104620
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	153	177	104620
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	127	25151	615302
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADAT3 CL E G H	113179	615286	Mental retardation, autosomal recessive 36	615286	C3809039	OMIM	1	127	25151	615302
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADCY6 CL E G H	112	616287	Lethal congenital contracture syndrome 8	616287	C4225385	OMIM	1	110	237	600294
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADCY6 CL E G H	112	616287	Lethal congenital contracture syndrome 8	616287	C4225385	OMIM	1	110	237	600294
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	137	257	102750
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADK CL E G H	132	614300	Hypermethioninemia due to adenosine kinase deficiency	614300	C3280381	OMIM	1	137	257	102750
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	808	291	608222
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADSL CL E G H	158	46	46,XX testicular disorder of sex development		C2936420	ORPHA	1	808	291	608222
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	808	291	608222
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	509	318	613228
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	509	318	613228
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	347	21869	610345
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	105	17258	606830
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AGTPBP1 CL E G H	23287	618276	618276	618276		OMIM	1	105	17258	606830
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	840	25230	615790
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AHDC1 CL E G H	27245	615829	Xia-Gibbs syndrome	615829	C4014419	OMIM	1	840	25230	615790
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AIFM1 CL E G H	9131	238329				ORPHA	1	575	8768	300169
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	575	8768	300169
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AIFM1 CL E G H	9131	300816	Combined oxidative phosphorylation deficiency 6	300816	C3151753	OMIM	1	575	8768	300169
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	586	9722	138250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALDH18A1 CL E G H	5832	616603	Cutis laxa, autosomal dominant 3	616603	C4225268	OMIM	1	586	9722	138250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	586	9722	138250
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	586	9722	138250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	763	408	610045
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	763	408	610045
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	209	7179	603178
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALDH6A1 CL E G H	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	614105	C3279840	OMIM	1	209	7179	603178
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	884	877	107323
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	884	877	107323
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	648	18294	605907
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	648	18294	605907
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG12 CL E G H	79087	607143	ALG12-congenital disorder of glycosylation	607143	C2931001	OMIM	1	659	19358	607144
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG12 CL E G H	79087	607143	ALG12-congenital disorder of glycosylation	607143	C2931001	OMIM	1	659	19358	607144
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG13 CL E G H	79868	324422				ORPHA	1	950	30881	300776
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG13 CL E G H	79868	324422				ORPHA	1	950	30881	300776
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	950	30881	300776
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG13 CL E G H	79868	300884	Epileptic encephalopathy, early infantile, 36	300884	C3550904	OMIM	1	950	30881	300776
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG14 CL E G H	199857	353327				ORPHA	1	144	28287	612866
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG2 CL E G H	85365	353327				ORPHA	1	335	23159	607905
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG8 CL E G H	79053	608104	Congenital disorder of glycosylation type 1H	608104	C2931002	OMIM	1	286	23161	608103
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG8 CL E G H	79053	608104	Congenital disorder of glycosylation type 1H	608104	C2931002	OMIM	1	286	23161	608103
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	312	15672	606941
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	312	15672	606941
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	934	438	171760
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	934	438	171760
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	450	26837	300647
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	450	26837	300647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	591	473	238310
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	591	473	238310
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	1073	494	600465
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ANK3 CL E G H	288	615493	Mental retardation, autosomal recessive 37	615493	C3809672	OMIM	1	1073	494	600465
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP1S1 CL E G H	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	609313	C1836330	OMIM	1	74	559	603531
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP1S2 CL E G H	8905	85329				ORPHA	1	241	560	300629
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	241	560	300629
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP1S2 CL E G H	8905	304340	Pettigrew syndrome	304340	C0796254	OMIM	1	241	560	300629
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP3B2 CL E G H	8120	442835				ORPHA	1	690	567	602166
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP3B2 CL E G H	8120	442835				ORPHA	1	690	567	602166
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	690	567	602166
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	690	567	602166
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	568	607246
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AP3D1 CL E G H	8943	617050	Hermansky-Pudlak syndrome 10	617050	C4310746	OMIM	1	893	568	607246
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	641	15853	605371
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARFGEF2 CL E G H	10564	608097	Heterotopia, periventricular, autosomal recessive	608097	C1842563	OMIM	1	641	15853	605371
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	394	29216	610911
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	394	29216	610911
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	930	11110	603024
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	930	11110	603024
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	313	18037	609539
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARID2 CL E G H	196528	617808	COFFIN-SIRIS SYNDROME 6	617808	C4540499	OMIM	1	313	18037	609539
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	340	25419	608922
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARSA CL E G H	410	309263				ORPHA	1	1140	713	607574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARSA CL E G H	410	309263				ORPHA	1	1140	713	607574
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARSA CL E G H	410	309256				ORPHA	1	1140	713	607574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARSA CL E G H	410	309256				ORPHA	1	1140	713	607574
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARV1 CL E G H	64801	442835				ORPHA	1	89	29561	611647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARV1 CL E G H	64801	442835				ORPHA	1	89	29561	611647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	89	29561	611647
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	89	29561	611647
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	810	18060	300382
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	810	18060	300382
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	1	165	24268	614215
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	780	18318	612990
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	780	18318	612990
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	399	25567	612316
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATCAY CL E G H	85300	94122				ORPHA	1	209	779	608179
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATCAY CL E G H	85300	94122				ORPHA	1	209	779	608179
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	209	779	608179
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	209	779	608179
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	230	794	601731
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	230	794	601731
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	209	823	164360
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP5F1A CL E G H	498	616045	Combined oxidative phosphorylation deficiency 22	616045	C4015062	OMIM	1	209	823	164360
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	610	18481	611716
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	610	18481	611716
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP6V1A CL E G H	523	442835				ORPHA	1	229	851	607027
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP6V1A CL E G H	523	442835				ORPHA	1	229	851	607027
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1	229	851	607027
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP6V1A CL E G H	523	617403	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	617403	C4479409	OMIM	1	229	851	607027
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	196	857	108746
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	196	857	108746
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	281	18802	608918
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	120	10548	601556
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATXN2 CL E G H	6311	98756				ORPHA	1	115	10555	601517
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	115	10555	601517
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B3GALT6 CL E G H	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	615349	C3809210	OMIM	1	450	17978	615291
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B3GALT6 CL E G H	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	615349	C3809210	OMIM	1	450	17978	615291
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	450	17978	615291
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	450	17978	615291
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	184	924	137060
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	358	930	604327
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	358	930	604327
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	310	24123	614144
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B9D1 CL E G H	27077	617120	Joubert syndrome 27	617120	C4310706	OMIM	1	310	24123	614144
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	596	986	608348
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	596	986	608348
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	647	987	248611
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	647	987	248611
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	525	13222	606558
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCL11B CL E G H	64919	617237	Immunodeficiency 49	617237	C4310656	OMIM	1	525	13222	606558
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	413	1020	603647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BIN1 CL E G H	274	169186				ORPHA	1	656	1052	601248
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BIN1 CL E G H	274	169186				ORPHA	1	656	1052	601248
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	316	24154	608699
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BMPER CL E G H	168667	608022	Diaphanospondylodysostosis	608022	C1842691	OMIM	1	316	24154	608699
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	1182	1097	164757
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	1182	1097	164757
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	679	17342	300553
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	679	17342	300553
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	303	16512	606412
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	303	16512	606412
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	598	1122	609019
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	598	1122	609019
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	1529	1149	602860
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	1529	1149	602860
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	C12orf4 CL E G H	57102	618221	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	618221		OMIM	1		1184	616082
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	C12orf4 CL E G H	57102	618221	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66	618221		OMIM	1		1184	616082
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	289	29521	615140
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	289	29521	615140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	C19orf12 CL E G H	83636	320370				ORPHA	1	307	25443	614297
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	C19orf12 CL E G H	83636	320370				ORPHA	1	307	25443	614297
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CACNA1A CL E G H	773	442835				ORPHA	1	3248	1388	601011
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CACNA1A CL E G H	773	442835				ORPHA	1	3248	1388	601011
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	3248	1388	601011
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	3248	1388	601011
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	299	19721	613165
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	299	19721	613165
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	844	1497	300172
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	844	1497	300172
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	2330	1514	601199
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	294	28909	300859
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CCDC22 CL E G H	28952	300963	Ritscher-schinzel syndrome 2	300963	C4225419	OMIM	1	294	28909	300859
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	563	14153	614666
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CCDC78 CL E G H	124093	614807	Myopathy, centronuclear, 4	614807	C3553709	OMIM	1	563	14153	614666
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	82	1689	107271
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	82	1689	107271
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	111	16892	606037
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	111	16892	606037
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	88	1736	116952
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	1	88	1736	116952
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1738	11411	300203
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1738	11411	300203
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	433	26690	613446
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CEP120 CL E G H	153241	617761	JOUBERT SYNDROME 31	617761	C4540355	OMIM	1	433	26690	613446
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	2944	29021	610142
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	2944	29021	610142
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	435	12370	610523
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CEP41 CL E G H	95681	614464	Joubert syndrome 15	614464	C3280897	OMIM	1	435	12370	610523
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	167	1875	601443
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHD1 CL E G H	1105	529965				ORPHA	1	217	1915	602118
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHD1 CL E G H	1105	529965				ORPHA	1	217	1915	602118
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	248	8740	164010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	268	24464	608429
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	268	24464	608429
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	1	686	2022	302910
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	230	2026	602024
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	230	2026	602024
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	478	2027	602023
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	478	2027	602023
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CLP1 CL E G H	10978	411493				ORPHA	1	97	16999	608757
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CLTC CL E G H	1213	442835				ORPHA	1	645	2092	118955
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CLTC CL E G H	1213	442835				ORPHA	1	645	2092	118955
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CNKSR2 CL E G H	22866	442835				ORPHA	1	306	19701	300724
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CNKSR2 CL E G H	22866	442835				ORPHA	1	306	19701	300724
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	425	8011	602346
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	425	8011	602346
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	339	18620	606976
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COG4 CL E G H	25839	613489	Congenital disorder of glycosylation type 2J	613489	C3150736	OMIM	1	339	18620	606976
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	456	18622	606978
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	456	18622	606978
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL12A1 CL E G H	1303	75840				ORPHA	1	2548	2188	120320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL12A1 CL E G H	1303	75840				ORPHA	1	2548	2188	120320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	2548	2188	120320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	2428	2197	120150
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	2428	2197	120150
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1759	2198	120160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL1A2 CL E G H	1278	617821	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2	617821	CN706304	OMIM	1	1759	2198	120160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	2380	2200	120140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	2380	2200	120140
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1718	2211	120220
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL6A1 CL E G H	1291	75840				ORPHA	1	1718	2211	120220
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1928	2212	120240
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL6A2 CL E G H	1292	75840				ORPHA	1	1928	2212	120240
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COL6A3 CL E G H	1293	75840				ORPHA	1	3001	2213	120250
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COL6A3 CL E G H	1293	75840				ORPHA	1	3001	2213	120250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	203	2244	601683
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	203	2244	601683
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COQ8A CL E G H	56997	612016	Coenzyme Q10 deficiency, primary, 4	612016	C2677589	OMIM	1	699	16812	606980
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	276	25302	612837
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COQ9 CL E G H	57017	614654	Coenzyme Q10 deficiency, primary, 5	614654	C3553374	OMIM	1	276	25302	612837
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	357	2263	603646
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX15 CL E G H	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	615119	C3554534	OMIM	1	357	2263	603646
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CPLANE1 CL E G H	65250	2754				ORPHA	1	1989	25801	614571
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CPLANE1 CL E G H	65250	2754				ORPHA	1	1989	25801	614571
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1989	25801	614571
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	1989	25801	614571
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	837	2328	600528
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CSPP1 CL E G H	79848	397715				ORPHA	1	1074	26193	611654
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CSPP1 CL E G H	79848	397715				ORPHA	1	1074	26193	611654
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CTBP1 CL E G H	1487	617915	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	617915	CN895589	OMIM	1	352	2494	602618
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CTBP1 CL E G H	1487	617915	HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	617915	CN895589	OMIM	1	352	2494	602618
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	279	13723	604167
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	279	13723	604167
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	624	2514	116806
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CTNNB1 CL E G H	1499	615075	Mental retardation, autosomal dominant 19	615075	C3554449	OMIM	1	624	2514	116806
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	284	28005	617057
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CTU2 CL E G H	348180	618142	MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME	618142		OMIM	1	284	28005	617057
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	415	2555	300304
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	415	2555	300304
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	100	25613	616120
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CWF19L1 CL E G H	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	616127	C4015301	OMIM	1	100	25613	616120
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CYFIP2 CL E G H	26999	442835				ORPHA	1	668	13760	606323
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CYFIP2 CL E G H	26999	442835				ORPHA	1	668	13760	606323
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	298	2602	126065
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CYP24A1 CL E G H	1591	143880	Idiopathic hypercalcemia of infancy	143880	C0268080	OMIM	1	298	2602	126065
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	236	2606	609506
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	146	20580	608713
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	468	28358	609186
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	468	28358	609186
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	630	2666	128239
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	683	2698	248610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	683	2698	248610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	130	29812	610534
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DCPS CL E G H	28960	616459	AL-RAQAD SYNDROME	616459	C4085595	OMIM	1	130	29812	610534
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDOST CL E G H	1650	300536				ORPHA	1	253	2728	602202
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDOST CL E G H	1650	300536				ORPHA	1	253	2728	602202
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	253	2728	602202
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDOST CL E G H	1650	614507	Congenital disorder of glycosylation type Ir	614507	C3281084	OMIM	1	253	2728	602202
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	339	2731	191311
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDR2 CL E G H	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	271665	C1849011	OMIM	1	339	2731	191311
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	203	2736	601150
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDX11 CL E G H	1663	613398	Warsaw breakage syndrome	613398	C3150658	OMIM	1	203	2736	601150
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDX3X CL E G H	1654	457260				ORPHA	1	745	2745	300160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDX3X CL E G H	1654	457260				ORPHA	1	745	2745	300160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	745	2745	300160
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DDX3X CL E G H	1654	300958	Mental retardation, X-linked 102	300958	C4085582	OMIM	1	745	2745	300160
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	695	14677	602635
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DEAF1 CL E G H	10522	617171	Dyskinesia, seizures, and intellectual developmental disorder	617171	C4310683	OMIM	1	695	14677	602635
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	239	2858	601465
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DHDDS CL E G H	79947	442835				ORPHA	1	434	20603	608172
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DHDDS CL E G H	79947	442835				ORPHA	1	434	20603	608172
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	582	2861	126060
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DHFR CL E G H	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	613839	C3151205	OMIM	1	582	2861	126060
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	674	23537	614984
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DHTKD1 CL E G H	55526	204750	2-aminoadipic 2-oxoadipic aciduria	204750	C1859817	OMIM	1	674	23537	614984
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	520	2898	238331
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DLD CL E G H	1738	2394	Frontonasal dysplasia Klippel Feil syndrome			ORPHA	1	520	2898	238331
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	520	2898	238331
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DLD CL E G H	1738	246900	Maple syrup urine disease, type 3	246900	CN043137	OMIM	1	520	2898	238331
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	304	2902	300189
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DLG3 CL E G H	1741	300850	X-Linked mental retardation 90	300850	C3275443	OMIM	1	304	2902	300189
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	8184	2928	300377
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	273	2933	605377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	273	2933	605377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNA2 CL E G H	1763	352470				ORPHA	1	601	2939	601810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	337	27030	617048
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	337	27030	617048
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNM1 CL E G H	1759	442835				ORPHA	1	765	2972	602377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNM1 CL E G H	1759	442835				ORPHA	1	765	2972	602377
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	591	2973	603850
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	1	591	2973	603850
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	1088	2974	602378
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	1088	2974	602378
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DNMT3A CL E G H	1788	615879	Tatton-Brown-rahman syndrome	615879	C4014545	OMIM	1	537	2978	602769
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DNMT3A CL E G H	1788	615879	Tatton-Brown-rahman syndrome	615879	C4014545	OMIM	1	537	2978	602769
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	1080	19189	614194
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DOCK6 CL E G H	57572	614219	Adams-Oliver syndrome 2	614219	C3280182	OMIM	1	1080	19189	614194
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPAGT1 CL E G H	1798	353327				ORPHA	1	312	2995	191350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	312	2995	191350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	312	2995	191350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	255	3005	603503
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	156	3006	603564
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	156	3006	603564
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	446	3012	612779
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	288	19087	607407
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EBF3 CL E G H	253738	617330	Hypotonia, ataxia, and delayed development syndrome	617330	C4310618	OMIM	1	288	19087	607407
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	317	3133	300205
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	317	3133	300205
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	431	3151	602292
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ECHS1 CL E G H	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	616277	C4225391	OMIM	1	431	3151	602292
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EEF1A2 CL E G H	1917	442835				ORPHA	1	575	3192	602959
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EEF1A2 CL E G H	1917	442835				ORPHA	1	575	3192	602959
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	428	3219	604633
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EFEMP2 CL E G H	30008	614437	Autosomal recessive cutis laxa type 1B	614437	C3280798	OMIM	1	428	3219	604633
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	394	25789	617538
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	394	25789	617538
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	257	3226	300035
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	257	3226	300035
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EHMT1 CL E G H	79813	610253	Chromosome 9q deletion syndrome	610253	C0795833	OMIM	1	1923	24650	607001
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EHMT1 CL E G H	79813	610253	Chromosome 9q deletion syndrome	610253	C0795833	OMIM	1	1923	24650	607001
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	192	3257	606686
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	192	3257	606686
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	190	3258	606454
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	190	3258	606454
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	181	3259	606273
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	181	3259	606273
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	233	3260	606687
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	233	3260	606687
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	579	3261	603945
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	579	3261	603945
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	208	3267	300161
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	208	3267	300161
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ELAC2 CL E G H	60528	615440	Combined oxidative phosphorylation deficiency 17	615440	C3809526	OMIM	1	905	14198	605367
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	966	3327	130160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	966	3327	130160
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	1752	5959	603722
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	938	28957	616846
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	938	28957	616846
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	1266	3373	602700
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EP300 CL E G H	2033	613684	Rubinstein-Taybi syndrome 2	613684	C3150941	OMIM	1	1266	3373	602700
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	1640	29331	615068
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1645	3438	609413
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1645	3438	609413
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ETHE1 CL E G H	23474	51188				ORPHA	1	338	23287	608451
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ETHE1 CL E G H	23474	51188				ORPHA	1	338	23287	608451
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	338	23287	608451
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	338	23287	608451
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EXOSC3 CL E G H	51010	614678	Pontocerebellar hypoplasia, type 1b	614678	C3553449	OMIM	1	227	17944	606489
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	260	9137	606180
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EXOSC9 CL E G H	5393	618065	PONTOCEREBELLAR HYPOPLASIA, TYPE 1D	618065	CN252648	OMIM	1	260	9137	606180
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	668	3513	608210
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EXT2 CL E G H	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	616682	C4225248	OMIM	1	668	3513	608210
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	538	3527	601573
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	538	3527	601573
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FAR1 CL E G H	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	616154	C4015344	OMIM	1	282	26222	616107
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FARS2 CL E G H	10667	614946	Combined oxidative phosphorylation deficiency 14	614946	C3554168	OMIM	1	564	21062	611592
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	212	3606	611570
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FBXL4 CL E G H	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	615471	C3809592	OMIM	1	566	13601	605654
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	30546	614585
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	125	30546	614585
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FGF12 CL E G H	2257	442835				ORPHA	1	259	3668	601513
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FGF12 CL E G H	2257	442835				ORPHA	1	259	3668	601513
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1798	3700	136850
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	1798	3700	136850
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	926	16873	609390
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	926	16873	609390
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKRP CL E G H	79147	34515				ORPHA	1	950	17997	606596
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	914	3622	607440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	914	3622	607440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	914	3622	607440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FLAD1 CL E G H	80308	255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	255100	C4310822	OMIM	1	235	24671	610595
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	2185	27310	607273
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	2185	27310	607273
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FLVCR1 CL E G H	28982	88628				ORPHA	1	529	24682	609144
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FLVCR1 CL E G H	28982	88628				ORPHA	1	529	24682	609144
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	700	3823	605515
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FOXP1 CL E G H	27086	613670	Mental retardation with language impairment and with or without autistic features	613670	C3150923	OMIM	1	700	3823	605515
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	323	26927	613622
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FOXRED1 CL E G H	55572	618241	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19	618241		OMIM	1	323	26927	613622
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	402	1362	604574
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	402	1362	604574
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	275	4081	137190
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	275	4081	137190
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GABRB2 CL E G H	2561	442835				ORPHA	1	494	4082	600232
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GABRB2 CL E G H	2561	442835				ORPHA	1	494	4082	600232
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	838	4083	137192
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	838	4083	137192
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	191	4116	606953
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	191	4116	606953
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GAN CL E G H	8139	643				ORPHA	1	777	4137	605379
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	784	4180	607839
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	784	4180	607839
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	720	4189	608801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	720	4189	608801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	176	4208	238330
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	176	4208	238330
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GDI1 CL E G H	2664	300849	X-Linked Mental Retardation 41	300849	C3887939	OMIM	1	305	4226	300104
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GDI1 CL E G H	2664	300849	X-Linked Mental Retardation 41	300849	C3887939	OMIM	1	305	4226	300104
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GFPT1 CL E G H	2673	353327				ORPHA	1	524	4241	138292
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2238	4313	238300
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2238	4313	238300
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	256	4341	138290
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	256	4341	138290
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	212	4367	613109
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GMPPB CL E G H	29925	353327				ORPHA	1	364	22932	615320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	364	22932	615320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	364	22932	615320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNB1 CL E G H	2782	488613				ORPHA	1	382	4396	139380
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	382	4396	139380
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNB1 CL E G H	2782	616973	Mental retardation, autosomal dominant 42	616973	C4310774	OMIM	1	382	4396	139380
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNB5 CL E G H	10681	617173	Intellectual developmental disorder with cardiac arrhythmia	617173	C4310682	OMIM	1	163	4401	604447
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNB5 CL E G H	10681	617173	Intellectual developmental disorder with cardiac arrhythmia	617173	C4310682	OMIM	1	163	4401	604447
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	947	23657	603824
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	947	23657	603824
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	314	4416	602744
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	314	4416	602744
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	989	4451	300037
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	989	4451	300037
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	243	4452	300168
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	243	4452	300168
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	109	18062	138210
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GPT2 CL E G H	84706	616281	Mental retardation, autosomal recessive 49	616281	C4225388	OMIM	1	109	18062	138210
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GPX4 CL E G H	2879	93317				ORPHA	1	177	4556	138322
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GPX4 CL E G H	2879	93317				ORPHA	1	177	4556	138322
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GPX4 CL E G H	2879	250220	Spondylometaphyseal dysplasia Sedaghatian type	250220	C1855229	OMIM	1	177	4556	138322
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GPX4 CL E G H	2879	250220	Spondylometaphyseal dysplasia Sedaghatian type	250220	C1855229	OMIM	1	177	4556	138322
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GRID2 CL E G H	2895	363432				ORPHA	1	241	4576	602368
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GRID2 CL E G H	2895	363432				ORPHA	1	241	4576	602368
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	241	4576	602368
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GRID2 CL E G H	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	616204	C4015505	OMIM	1	241	4576	602368
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GRIN2D CL E G H	2906	442835				ORPHA	1	823	4588	602717
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GRIN2D CL E G H	2906	442835				ORPHA	1	823	4588	602717
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	147	4670	607434
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	147	4670	607434
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GTPBP3 CL E G H	84705	616198	Combined oxidative phosphorylation deficiency 23	616198	C4015447	OMIM	1	466	14880	608536
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GTPBP3 CL E G H	84705	616198	Combined oxidative phosphorylation deficiency 23	616198	C4015447	OMIM	1	466	14880	608536
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	227	21033	610876
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	227	21033	610876
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	792	4801	600890
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	367	4803	143450
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	858	4839	300019
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	858	4839	300019
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HCN1 CL E G H	348980	442835				ORPHA	1	796	4845	602780
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HCN1 CL E G H	348980	442835				ORPHA	1	796	4845	602780
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	381	13315	300269
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	381	13315	300269
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HEPACAM CL E G H	220296	613926	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	613926	C3151356	OMIM	1	304	26361	611642
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HEPACAM CL E G H	220296	613926	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	613926	C3151356	OMIM	1	304	26361	611642
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	1115	4867	605109
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HERC1 CL E G H	8925	617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	617011	C4310766	OMIM	1	1115	4867	605109
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	936	4868	605837
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HERC2 CL E G H	8924	615516	Mental retardation, autosomal recessive 38	615516	C3809753	OMIM	1	936	4868	605837
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	1002	4878	606869
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	1002	4878	606869
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	235	4908	610690
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HIBCH CL E G H	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	250620	C0342738	OMIM	1	235	4908	610690
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	76	26938	614908
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HIKESHI CL E G H	51501	616881	Leukodystrophy, hypomyelinating, 13	616881	C4225170	OMIM	1	76	26938	614908
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	643	4921	143054
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HIVEP2 CL E G H	3097	616977	Mental retardation, autosomal dominant 43	616977	C4310771	OMIM	1	643	4921	143054
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	885	4976	609018
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	885	4976	609018
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	196	5042	300610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	196	5042	300610
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	354	5157	308000
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	354	5157	308000
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	256	4800	300256
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	256	4800	300256
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	278	5261	118190
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	278	5261	118190
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HTRA2 CL E G H	27429	617248	3-methylglutaconic aciduria, type VIII	617248	C4310650	OMIM	1	244	14348	606441
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1		5330	600709
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IARS CL E G H	3376	617093	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	617093	C4310720	OMIM	1		5330	600709
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IFIH1 CL E G H	64135	615846	Aicardi-Goutieres syndrome 7	615846	C3888244	OMIM	1	1170	18873	606951
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	1170	18873	606951
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	1170	18873	606951
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	146	5466	147470
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	146	5466	147470
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	187	33882	607875
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	187	33882	607875
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	467	6080	600829
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	467	6080	600829
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	1144	29059	300522
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IQSEC2 CL E G H	23096	309530	Mental retardation, X-linked 1	309530	C2931498	OMIM	1	1144	29059	300522
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	83	19857	615317
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	83	19857	615317
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	733	37276	614631
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ITPR1 CL E G H	3708	208513				ORPHA	1	1563	6180	147265
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ITPR1 CL E G H	3708	208513				ORPHA	1	1563	6180	147265
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	1003	17582	605880
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	1003	17582	605880
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	1003	17582	605880
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KAT6B CL E G H	23522	603736	Young Simpson syndrome	603736	C1863557	OMIM	1	1003	17582	605880
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNA2 CL E G H	3737	442835				ORPHA	1	401	6220	176262
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNA2 CL E G H	3737	442835				ORPHA	1	401	6220	176262
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNB1 CL E G H	3745	442835				ORPHA	1	635	6231	600397
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNB1 CL E G H	3745	442835				ORPHA	1	635	6231	600397
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNC3 CL E G H	3748	98768				ORPHA	1	311	6235	176264
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNC3 CL E G H	3748	98768				ORPHA	1	311	6235	176264
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	311	6235	176264
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	311	6235	176264
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	566	6250	603305
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	566	6250	603305
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	566	6250	603305
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	566	6250	603305
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	381	6256	602208
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	381	6256	602208
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1962	6296	602235
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1962	6296	602235
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	2000	18865	608167
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	2000	18865	608167
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	1	230	29079	609132
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	1	230	29079	609132
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIAA0586 CL E G H	9786	397715				ORPHA	1	1253	19960	610178
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIAA0586 CL E G H	9786	397715				ORPHA	1	1253	19960	610178
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIAA0586 CL E G H	9786	616546	Short-rib thoracic dysplasia 14 with polydactyly	616546	C4225286	OMIM	1	1253	19960	610178
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIAA0586 CL E G H	9786	616546	Short-rib thoracic dysplasia 14 with polydactyly	616546	C4225286	OMIM	1	1253	19960	610178
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIAA0753 CL E G H	9851	2754				ORPHA	1	387	29110	617112
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIAA0753 CL E G H	9851	2754				ORPHA	1	387	29110	617112
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1		26953	611565
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIAA1109 CL E G H	84162	617822	ALKURAYA-KUCINSKAS SYNDROME	617822	CN737163	OMIM	1		26953	611565
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2622	888	601255
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2622	888	601255
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	513	6391	603213
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	513	6391	603213
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF7 CL E G H	374654	2754				ORPHA	1	1401	30497	611254
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF7 CL E G H	374654	2754				ORPHA	1	1401	30497	611254
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	2073	7132	159555
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	2073	7132	159555
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	161	6404	615620
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KPTN CL E G H	11133	615637	Mental retardation, autosomal recessive 41	615637	C3810225	OMIM	1	161	6404	615620
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	4179	6482	156225
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	767	6486	150240
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LAMB1 CL E G H	3912	615191	Lissencephaly 5	615191	C3554657	OMIM	1	767	6486	150240
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	915	6487	150325
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	915	6487	150325
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	786	6511	603590
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LARS CL E G H	51520	615438	Infantile liver failure syndrome 1	615438	C3809522	OMIM	1		6512	151350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LIAS CL E G H	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	614462	C3280887	OMIM	1	410	16429	607031
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	945	6597	151443
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	945	6597	151443
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LINS1 CL E G H	55180	614340	Mental retardation, autosomal recessive 27	614340	C3280538	OMIM	1	275	30922	610350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	276	23038	612625
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	276	23038	612625
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	392	6649	616112
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1819	6697	603506
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1819	6697	603506
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	1479	15714	607544
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	1479	15714	607544
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	773	6717	604710
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LTBP4 CL E G H	8425	613177	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities	613177	C2750804	OMIM	1	773	6717	604710
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LYRM7 CL E G H	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	615838	C4014440	OMIM	1	92	28072	615831
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MAG CL E G H	4099	459056				ORPHA	1	272	6783	159460
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MAG CL E G H	4099	459056				ORPHA	1	272	6783	159460
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	1351	6826	609458
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	1	485	6831	609489
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MANBA CL E G H	4126	248510	Beta-D-mannosidosis	248510	C4048196	OMIM	1	485	6831	609489
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MAP3K20 CL E G H	51776	617760	MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION	617760	C4540345	OMIM	1	368	17797	609479
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MAPRE2 CL E G H	10982	616734	Skin creases, congenital symmetric circumferential, 2	616734	C4225225	OMIM	1	73	6891	605789
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MAPRE2 CL E G H	10982	616734	Skin creases, congenital symmetric circumferential, 2	616734	C4225225	OMIM	1	73	6891	605789
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	204	25133	609728
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	204	25133	609728
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MBOAT7 CL E G H	79143	617188	Mental retardation, autosomal recessive 57	617188	C4310673	OMIM	1	113	15505	606048
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MBOAT7 CL E G H	79143	617188	Mental retardation, autosomal recessive 57	617188	C4310673	OMIM	1	113	15505	606048
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MCCC1 CL E G H	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	210200	CN028786	OMIM	1	720	6936	609010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MCCC1 CL E G H	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	210200	CN028786	OMIM	1	720	6936	609010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MCCC2 CL E G H	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	210210	C1859499	OMIM	1	644	6937	609014
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MCCC2 CL E G H	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	210210	C1859499	OMIM	1	644	6937	609014
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MCM3AP CL E G H	8888	618124	PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	618124	CN253838	OMIM	1	1245	6946	603294
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	669	13356	605248
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1573	11957	300188
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MED12 CL E G H	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	309520	C0796022	OMIM	1	1573	11957	300188
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	1047	22962	608771
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MED13L CL E G H	23389	616789	Mental retardation and distinctive facial features with or without cardiac defects	616789	C4225208	OMIM	1	1047	22962	608771
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MEF2C CL E G H	4208	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	613443	C3150700	OMIM	1	515	6996	600662
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MEF2C CL E G H	4208	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	613443	C3150700	OMIM	1	515	6996	600662
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	147	25897	614397
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MFSD2A CL E G H	84879	616486	Primary autosomal recessive microcephaly 15	616486	C4225310	OMIM	1	147	25897	614397
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	148	7045	602616
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	148	7045	602616
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MIPEP CL E G H	4285	617228	Combined oxidative phosphorylation deficiency 31	617228	C4310661	OMIM	1	264	7104	602241
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MIPEP CL E G H	4285	617228	Combined oxidative phosphorylation deficiency 31	617228	C4310661	OMIM	1	264	7104	602241
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MITF CL E G H	4286	617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	617306	C4310625	OMIM	1	539	7105	156845
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MITF CL E G H	4286	617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	617306	C4310625	OMIM	1	539	7105	156845
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	839	7121	609883
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MKS1 CL E G H	54903	617121	Joubert syndrome 28	617121	C4310705	OMIM	1	839	7121	609883
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	248	12744	605678
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	248	12744	605678
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	482	7150	606761
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	482	7150	606761
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	483	18871	607481
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	461	19331	607568
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	524	24525	609831
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	282	25221	611935
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	282	25221	611935
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1	896	7526	609058
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1	896	7526	609058
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	473	24862	601336
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	473	24862	601336
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MORC2 CL E G H	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	616688	C4225243	OMIM	1	726	23573	616661
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	21606	614738
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MPC1 CL E G H	51660	614741	Mitochondrial pyruvate carrier deficiency	614741	C3553607	OMIM	1	98	21606	614738
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	125	7207	604041
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MPDU1 CL E G H	9526	609180	Congenital disorder of glycosylation type 1F	609180	C1836669	OMIM	1	125	7207	604041
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	398	7216	154550
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	398	7216	154550
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	264	7224	137960
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MRE11 CL E G H	4361	251347				ORPHA	1	1911	7230	600814
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	188	14508	605810
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MSTO1 CL E G H	55154	502423				ORPHA	1	158	29678	617619
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	158	29678	617619
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MT-TE CL E G H	4556	254864				ORPHA	1		7479	590025
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1		7501	590095
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTO1 CL E G H	25821	614702	Combined oxidative phosphorylation deficiency 10	614702	C3553529	OMIM	1	638	19261	614667
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTO1 CL E G H	25821	614702	Combined oxidative phosphorylation deficiency 10	614702	C3553529	OMIM	1	638	19261	614667
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTOR CL E G H	2475	616638	Smith-Kingsmore syndrome	616638	C4225259	OMIM	1	2134	3942	601231
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTOR CL E G H	2475	616638	Smith-Kingsmore syndrome	616638	C4225259	OMIM	1	2134	3942	601231
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTR CL E G H	4548	250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	250940	C1855128	OMIM	1	899	7468	156570
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTR CL E G H	4548	250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	250940	C1855128	OMIM	1	899	7468	156570
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTRR CL E G H	4552	236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	236270	C1856057	OMIM	1	872	7473	602568
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTRR CL E G H	4552	236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	236270	C1856057	OMIM	1	872	7473	602568
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	570	7530	251170
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	570	7530	251170
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYH7 CL E G H	4625	324604				ORPHA	1	4106	7577	160760
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYH7 CL E G H	4625	324604				ORPHA	1	4106	7577	160760
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYO5A CL E G H	4644	79476				ORPHA	1	337	7602	160777
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYO5A CL E G H	4644	79476				ORPHA	1	337	7602	160777
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYO5A CL E G H	4644	214450	Griscelli syndrome type 1	214450	C1859194	OMIM	1	337	7602	160777
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYO5A CL E G H	4644	214450	Griscelli syndrome type 1	214450	C1859194	OMIM	1	337	7602	160777
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NAA10 CL E G H	8260	276432				ORPHA	1	401	18704	300013
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NAA10 CL E G H	8260	276432				ORPHA	1	401	18704	300013
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NACC1 CL E G H	112939	617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	617393	C4479333	OMIM	1	341	20967	610672
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	230	7631	104170
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	230	7631	104170
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	877	19082	611549
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NALCN CL E G H	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	616266	C4225398	OMIM	1	877	19082	611549
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	180	19237	605202
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	180	19237	605202
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	167	26742	610647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	167	26742	610647
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	146	18453	608862
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NAXE CL E G H	128240	617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	617186	C4310675	OMIM	1	146	18453	608862
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDST1 CL E G H	3340	616116	Mental retardation, autosomal recessive 46	616116	C4015283	OMIM	1	183	7680	600853
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFA11 CL E G H	126328	618236	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14	618236		OMIM	1	131	20371	612638
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	92	23987	614530
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFA12 CL E G H	55967	618244	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	618244		OMIM	1	92	23987	614530
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFAF4 CL E G H	29078	618237	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15	618237		OMIM	1	136	21034	611776
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	281	28625	612392
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFAF6 CL E G H	137682	618239	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17	618239		OMIM	1	281	28625	612392
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFB3 CL E G H	4709	618246	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25	618246		OMIM	1	79	7698	603839
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NDUFV2 CL E G H	4729	618229	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229		OMIM	1	229	7717	600532
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NDUFV2 CL E G H	4729	618229	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7	618229		OMIM	1	229	7717	600532
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NECAP1 CL E G H	25977	442835				ORPHA	1	221	24539	611623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NECAP1 CL E G H	25977	442835				ORPHA	1	221	24539	611623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NECAP1 CL E G H	25977	615833	Early infantile epileptic encephalopathy 21	615833	C4014430	OMIM	1	221	24539	611623
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NECAP1 CL E G H	25977	615833	Early infantile epileptic encephalopathy 21	615833	C4014430	OMIM	1	221	24539	611623
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	185	7758	608272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	185	7758	608272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NFIA CL E G H	4774	613735	Brain malformations and urinary tract defects	613735	C3151036	OMIM	1	275	7784	600727
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NFIA CL E G H	4774	613735	Brain malformations and urinary tract defects	613735	C3151036	OMIM	1	275	7784	600727
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	348	7788	164005
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	348	7788	164005
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NFIX CL E G H	4784	614753	Sotos syndrome 2	614753	C3553660	OMIM	1	348	7788	164005
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NFIX CL E G H	4784	614753	Sotos syndrome 2	614753	C3553660	OMIM	1	348	7788	164005
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	1	656	17646	610661
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	317	11825	600635
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	317	11825	600635
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	233	19321	605955
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	233	19321	605955
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	243	7871	300084
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	243	7871	300084
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	2109	7897	607623
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	232	14537	601015
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	815	7905	607100
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NPHP1 CL E G H	4867	609583	Joubert syndrome 4	609583	C1846790	OMIM	1	815	7905	607100
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	1	281	7989	164790
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	1	281	7989	164790
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NRXN1 CL E G H	9378	614325	Pitt-Hopkins-like syndrome 2	614325	C3280479	OMIM	1	2065	8008	600565
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NRXN1 CL E G H	9378	614325	Pitt-Hopkins-like syndrome 2	614325	C3280479	OMIM	1	2065	8008	600565
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	368	13398	300275
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NSDHL CL E G H	50814	300831	NSDHL-Related Disorders	300831	C3151781	OMIM	1	368	13398	300275
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NTRK2 CL E G H	4915	442835				ORPHA	1	509	8032	600456
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NTRK2 CL E G H	4915	442835				ORPHA	1	509	8032	600456
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NUS1 CL E G H	116150	442835				ORPHA	1	326	21042	610463
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NUS1 CL E G H	116150	442835				ORPHA	1	326	21042	610463
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	326	21042	610463
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	326	21042	610463
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OFD1 CL E G H	8481	2754				ORPHA	1	1020	2567	300170
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OFD1 CL E G H	8481	2754				ORPHA	1	1020	2567	300170
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	1020	2567	300170
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	1020	2567	300170
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OGDH CL E G H	4967	203740	Alpha-ketoglutarate dehydrogenase deficiency	203740	C2752074	OMIM	1	171	8124	613022
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OGDH CL E G H	4967	203740	Alpha-ketoglutarate dehydrogenase deficiency	203740	C2752074	OMIM	1	171	8124	613022
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	475	8148	300127
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	475	8148	300127
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	152	18028	610107
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	152	18028	610107
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	271	21652	607649
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	271	21652	607649
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OTUD6B CL E G H	51633	505237				ORPHA	1	89	24281	612021
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OTUD6B CL E G H	51633	505237				ORPHA	1	89	24281	612021
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	89	24281	612021
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	89	24281	612021
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	OTX2 CL E G H	5015	610125	Microphthalmia syndromic 5	610125	C1864690	OMIM	1	231	8522	600037
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	OTX2 CL E G H	5015	610125	Microphthalmia syndromic 5	610125	C1864690	OMIM	1	231	8522	600037
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	216	8622	167415
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	1101	8636	608786
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PCBD1 CL E G H	5092	264070	Hyperphenylalaninemia, BH4-deficient, D	264070	C1849700	OMIM	1	91	8646	126090
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PCBD1 CL E G H	5092	264070	Hyperphenylalaninemia, BH4-deficient, D	264070	C1849700	OMIM	1	91	8646	126090
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PDE6D CL E G H	5147	2754				ORPHA	1	89	8788	602676
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PDE6D CL E G H	5147	2754				ORPHA	1	89	8788	602676
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PDHB CL E G H	5162	614111	Pyruvate dehydrogenase E1-beta deficiency	614111	C3279841	OMIM	1	281	8808	179060
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PDHB CL E G H	5162	614111	Pyruvate dehydrogenase E1-beta deficiency	614111	C3279841	OMIM	1	281	8808	179060
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PDP1 CL E G H	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	608782	C1837429	OMIM	1	185	9279	605993
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PDP1 CL E G H	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	608782	C1837429	OMIM	1	185	9279	605993
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	1537	8850	602136
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	803	8851	602859
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX10 CL E G H	5192	614870	Peroxisome biogenesis disorder 6A	614870	C3553947	OMIM	1	803	8851	602859
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	459	8854	601758
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	459	8854	601758
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX12 CL E G H	5193	614859	Peroxisome biogenesis disorder 3A	614859	C3553929	OMIM	1	459	8854	601758
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	497	8855	601789
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	497	8855	601789
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	474	8856	601791
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX14 CL E G H	5195	614887	Peroxisome biogenesis disorder 13A	614887	C3554004	OMIM	1	474	8856	601791
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	470	8857	603360
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX16 CL E G H	9409	614876	Peroxisome biogenesis disorder 8A	614876	C3553959	OMIM	1	470	8857	603360
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX19 CL E G H	5824	614886	Peroxisome biogenesis disorder 12A	614886	C3554002	OMIM	1	379	9713	600279
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX2 CL E G H	5828	614866	Peroxisome biogenesis disorder 5a (zellweger)	614866	C3553940	OMIM	1	463	9717	170993
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	358	8858	603164
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX3 CL E G H	8504	614882	Peroxisome biogenesis disorder 10A	614882	C3553999	OMIM	1	358	8858	603164
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX3 CL E G H	8504	617370	Peroxisome biogenesis disorder 10b	617370	C4479254	OMIM	1	358	8858	603164
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX3 CL E G H	8504	617370	Peroxisome biogenesis disorder 10b	617370	C4479254	OMIM	1	358	8858	603164
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	858	9719	600414
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1458	8859	601498
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX6 CL E G H	5190	614862	Peroxisome biogenesis disorder 4a (zellweger)	614862	C3553936	OMIM	1	1458	8859	601498
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	1	112	17893	615187
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PGAP2 CL E G H	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	614207	C3280153	OMIM	1	112	17893	615187
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	1	169	23719	611801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PGAP3 CL E G H	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	615716	C3810354	OMIM	1	169	23719	611801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	359	8907	172100
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PGM3 CL E G H	5238	615816	Immunodeficiency 23	615816	C4014371	OMIM	1	359	8907	172100
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PHKB CL E G H	5257	261750	Glycogen storage disease IXb	261750	C0543514	OMIM	1	604	8927	172490
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	216	8931	172471
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	1057	25985	616918
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGG CL E G H	54872	616917	Mental retardation, autosomal recessive 53	616917	C4310794	OMIM	1	1057	25985	616918
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGH CL E G H	5283	618010	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17	618010	CN248527	OMIM	1	29	8964	600154
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	156	8966	605947
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	156	8966	605947
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	1010	8967	606097
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	1010	8967	606097
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGO CL E G H	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	614749	C3553637	OMIM	1	936	23215	614730
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	277	14938	610272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	277	14938	610272
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	304	26031	610274
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGV CL E G H	55650	239300	Hyperphosphatasia with mental retardation syndrome 1	239300	CN030519	OMIM	1	304	26031	610274
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIK3CA CL E G H	5290	602501	Megalencephaly cutis marmorata telangiectatica congenita	602501	C1865285	OMIM	1	1159	8975	171834
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIK3CA CL E G H	5290	602501	Megalencephaly cutis marmorata telangiectatica congenita	602501	C1865285	OMIM	1	1159	8975	171834
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	775	9039	603604
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	775	9039	603604
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	931	9081	153454
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	931	9081	153454
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	451	9086	300401
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	451	9086	300401
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	745	9115	601785
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PMP22 CL E G H	5376	98916				ORPHA	1	492	9118	601097
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PMP22 CL E G H	5376	98916				ORPHA	1	492	9118	601097
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	205	18667	613036
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PMPCA CL E G H	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	213200	C1859298	OMIM	1	205	18667	613036
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PNKP CL E G H	11284	613402	Early infantile epileptic encephalopathy 10	613402	C3150667	OMIM	1	1028	9154	605610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PNKP CL E G H	11284	613402	Early infantile epileptic encephalopathy 10	613402	C3150667	OMIM	1	1028	9154	605610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	258	7892	164050
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	258	7892	164050
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PNPLA2 CL E G H	57104	98908				ORPHA	1	566	30802	609059
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	566	30802	609059
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	271	28900	612123
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PNPLA8 CL E G H	50640	251950	Mitochondrial myopathy with lactic acidosis	251950	C1855033	OMIM	1	271	28900	612123
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	611	18801	614787
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	611	18801	614787
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG CL E G H	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	613662	C3150914	OMIM	1	2324	9179	174763
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG CL E G H	5428	94125	Recessive mitochondrial ataxia syndrome		CN206743	ORPHA	1	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	1025	30074	614258
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLR3A CL E G H	11128	264090	Neonatal pseudo-hydrocephalic progeroid syndrome	264090	C0406586	OMIM	1	1025	30074	614258
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	1174	19139	606822
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POMGNT2 CL E G H	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	614830	C3553813	OMIM	1	416	25902	614828
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	936	19743	607439
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	104	9210	173110
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPM1D CL E G H	8493	617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	617450	C4479517	OMIM	1	230	9277	605100
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPM1D CL E G H	8493	617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	617450	C4479517	OMIM	1	230	9277	605100
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	1	215	9282	600590
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	1	215	9282	600590
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	358	9302	605983
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	358	9302	605983
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	397	9312	601646
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	397	9312	601646
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPP3CA CL E G H	5530	442835				ORPHA	1	351	9314	114105
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPP3CA CL E G H	5530	442835				ORPHA	1	351	9314	114105
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	617	9325	600722
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	64	9352	176763
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRKCG CL E G H	5582	98763				ORPHA	1	323	9402	176980
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRKCG CL E G H	5582	98763				ORPHA	1	323	9402	176980
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	148	9407	605435
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRKD1 CL E G H	5587	617364	Congenital heart defects and ectodermal dysplasia	617364	C4479250	OMIM	1	148	9407	605435
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	215	25557	610087
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRMT7 CL E G H	54496	617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	617157	C4310689	OMIM	1	215	25557	610087
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRODH CL E G H	5625	239500	Proline dehydrogenase deficiency	239500	C0268529	OMIM	1	778	9453	606810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRODH CL E G H	5625	239500	Proline dehydrogenase deficiency	239500	C0268529	OMIM	1	778	9453	606810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	415	9462	311850
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	415	9462	311850
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	105	13420	617413
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRUNE1 CL E G H	58497	617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	617481	C4479566	OMIM	1	105	13420	617413
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PSAP CL E G H	5660	309256				ORPHA	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PSAP CL E G H	5660	309263				ORPHA	1	772	9498	176801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PSAP CL E G H	5660	309263				ORPHA	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PSAP CL E G H	5660	309256				ORPHA	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PSAP CL E G H	5660	611721	Combined saposin deficiency	611721	C2673635	OMIM	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	772	9498	176801
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	772	9498	176801
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PTDSS1 CL E G H	9791	151050	Lenz-Majewski hyperostosis syndrome	151050	C0432269	OMIM	1	190	9587	612792
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PTDSS1 CL E G H	9791	151050	Lenz-Majewski hyperostosis syndrome	151050	C0432269	OMIM	1	190	9587	612792
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PTRH2 CL E G H	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	616263	C4015728	OMIM	1	49	24265	608625
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PUS3 CL E G H	83480	617051	Mental retardation, autosomal recessive 55	617051	C4310745	OMIM	1	304	25461	616283
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PUS3 CL E G H	83480	617051	Mental retardation, autosomal recessive 55	617051	C4310745	OMIM	1	304	25461	616283
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RAC1 CL E G H	5879	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	617751	C4540321	OMIM	1	112	9801	602048
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RAC1 CL E G H	5879	617751	MENTAL RETARDATION, AUTOSOMAL DOMINANT 48	617751	C4540321	OMIM	1	112	9801	602048
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1608	9834	607642
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RAI1 CL E G H	10743	182290	Smith-Magenis syndrome	182290	C0795864	OMIM	1	1608	9834	607642
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	641	21406	611524
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RARS2 CL E G H	57038	611523	Pontocerebellar hypoplasia type 6	611523	C1969084	OMIM	1	641	21406	611524
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	333	9896	300080
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RBM10 CL E G H	8241	311900	TARP syndrome	311900	C1839463	OMIM	1	333	9896	300080
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RERE CL E G H	473	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	C4310772	OMIM	1	659	9965	605226
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RERE CL E G H	473	616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	616975	C4310772	OMIM	1	659	9965	605226
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	3165	9967	164761
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	523	25964	613114
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	523	25964	613114
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	505	30220	611908
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RFT1 CL E G H	91869	612015	Congenital disorder of glycosylation type 1N	612015	C2677590	OMIM	1	505	30220	611908
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	262	21176	614917
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	307	24116	610330
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RNASEH2C CL E G H	84153	610329	Aicardi Goutieres syndrome 3	610329	C1835916	OMIM	1	307	24116	610330
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RNF125 CL E G H	54941	616260	Tenorio syndrome	616260	C4015710	OMIM	1	107	21150	610432
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RNF125 CL E G H	54941	616260	Tenorio syndrome	616260	C4015710	OMIM	1	107	21150	610432
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	261	34016	601428
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RNU4ATAC CL E G H	100151683	616651	Roifman syndrome	616651	C1846059	OMIM	1	261	34016	601428
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	18	10410	603683
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RPS23 CL E G H	6228	617412	MacInnes syndrome	617412	C4479431	OMIM	1	18	10410	603683
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	515	10432	300075
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	515	10432	300075
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RPS6KA3 CL E G H	6197	300844	Mental retardation, X-linked 19	300844	C0796225	OMIM	1	515	10432	300075
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RPS6KA3 CL E G H	6197	300844	Mental retardation, X-linked 19	300844	C0796225	OMIM	1	515	10432	300075
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RRM2B CL E G H	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	612075	C2749861	OMIM	1	354	17296	604712
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RYR1 CL E G H	6261	324581				ORPHA	1	6164	10483	180901
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RYR1 CL E G H	6261	98905				ORPHA	1	6164	10483	180901
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RYR1 CL E G H	6261	169186				ORPHA	1	6164	10483	180901
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RYR1 CL E G H	6261	169186				ORPHA	1	6164	10483	180901
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RYR1 CL E G H	6261	324581				ORPHA	1	6164	10483	180901
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SARS2 CL E G H	54938	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	613845	C3151209	OMIM	1	256	17697	612804
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SARS2 CL E G H	54938	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	613845	C3151209	OMIM	1	256	17697	612804
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SBDS CL E G H	51119	811	Balo disease			ORPHA	1	119	19440	607444
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SBDS CL E G H	51119	811	Balo disease			ORPHA	1	119	19440	607444
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	1	242	10547	602286
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	1	242	10547	602286
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	511	10586	600235
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	511	10586	600235
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCN3A CL E G H	6328	442835				ORPHA	1	1420	10590	182391
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCN3A CL E G H	6328	442835				ORPHA	1	1420	10590	182391
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCN8A CL E G H	6334	442835				ORPHA	1	1799	10596	600702
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCN8A CL E G H	6334	442835				ORPHA	1	1799	10596	600702
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCN8A CL E G H	6334	614558	Early infantile epileptic encephalopathy 13	614558	C3281191	OMIM	1	1799	10596	600702
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCN8A CL E G H	6334	614558	Early infantile epileptic encephalopathy 13	614558	C3281191	OMIM	1	1799	10596	600702
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2254	10597	603415
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	2254	10597	603415
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	701	10604	604272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	701	10604	604272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SELENON CL E G H	57190	324604				ORPHA	1	651	15999	606210
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SELENON CL E G H	57190	324604				ORPHA	1	651	15999	606210
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SELENON CL E G H	57190	97244				ORPHA	1	651	15999	606210
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	651	15999	606210
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SERAC1 CL E G H	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	614739	C3553597	OMIM	1	400	21061	614725
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SERPINH1 CL E G H	871	613848	Osteogenesis imperfecta type 10	613848	C3151211	OMIM	1	214	1546	600943
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SERPINH1 CL E G H	871	613848	Osteogenesis imperfecta type 10	613848	C3151211	OMIM	1	214	1546	600943
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	114	10760	600960
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SET CL E G H	6418	618106	MENTAL RETARDATION, AUTOSOMAL DOMINANT 58	618106	CN253713	OMIM	1	114	10760	600960
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	1013	18420	612778
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SETD2 CL E G H	29072	616831	Luscan-lumish syndrome	616831	C4085873	OMIM	1	1013	18420	612778
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	179	16088	615564
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	179	16088	615564
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	352	24624	608005
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	400	19353	607776
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	183	10889	603714
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	183	10889	603714
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	128	10892	606326
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	128	10892	606326
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	1	1062	10896	164780
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	1	1062	10896	164780
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC13A5 CL E G H	284111	442835				ORPHA	1	685	23089	608305
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC13A5 CL E G H	284111	442835				ORPHA	1	685	23089	608305
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	685	23089	608305
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	685	23089	608305
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	520	10933	604322
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC1A2 CL E G H	6506	442835				ORPHA	1	359	10940	600300
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC1A2 CL E G H	6506	442835				ORPHA	1	359	10940	600300
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	1	266	10941	600111
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC1A3 CL E G H	6507	612656	Episodic ataxia, type 6	612656	C2675211	OMIM	1	266	10941	600111
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC1A4 CL E G H	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	616657	C4225254	OMIM	1	208	10942	600229
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	1027	10969	603377
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A15 CL E G H	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	238970	C0268540	OMIM	1	405	10985	603861
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	197	1421	613698
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	123	20662	608744
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A24 CL E G H	29957	612289	Fontaine progeroid syndrome	612289	C2676780	OMIM	1	123	20662	608744
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A4 CL E G H	291	617184	Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant	617184	C4310676	OMIM	1	333	10990	103220
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A4 CL E G H	291	617184	Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant	617184	C4310676	OMIM	1	333	10990	103220
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	1	385	25198	610826
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A46 CL E G H	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	616505	C4225302	OMIM	1	385	25198	610826
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	571	13444	606145
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC2A10 CL E G H	81031	208050	Arterial tortuosity syndrome	208050	C1859726	OMIM	1	571	13444	606145
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	213	95	603690
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	213	95	603690
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	569	20305	609826
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	429	11022	314375
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	429	11022	314375
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC35A3 CL E G H	23443	615553	Arthrogryposis, mental retardation, and seizures	615553	C3809910	OMIM	1	241	11023	605632
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC35A3 CL E G H	23443	615553	Arthrogryposis, mental retardation, and seizures	615553	C3809910	OMIM	1	241	11023	605632
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	1	298	20197	605881
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	1	298	20197	605881
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC39A8 CL E G H	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	616721	C4225234	OMIM	1	181	20862	608732
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC39A8 CL E G H	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	616721	C4225234	OMIM	1	181	20862	608732
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC45A1 CL E G H	50651	617532	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	617532	C4479636	OMIM	1	134	17939	605763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC45A1 CL E G H	50651	617532	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES	617532	C4479636	OMIM	1	134	17939	605763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	329	30521	611672
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	520	30224	607882
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	1	520	30224	607882
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	671	11065	603593
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC9A6 CL E G H	10479	300243	Christianson syndrome	300243	C2678194	OMIM	1	612	11079	300231
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	1	4979	11100	603254
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SMARCA4 CL E G H	6597	614609	Mental retardation, autosomal dominant 16	614609	C3553249	OMIM	1	4979	11100	603254
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	1043	11103	601607
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	1043	11103	601607
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	65	25763	613176
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	864	11120	607608
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	294	11123	300105
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	294	11123	300105
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	183	30587	608241
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	183	30587	608241
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	270	14977	616105
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SNX14 CL E G H	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	616354	C4225355	OMIM	1	270	14977	616105
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	1031	11183	182465
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SON CL E G H	6651	617140	ZTTK syndrome	617140	C4310696	OMIM	1	1031	11183	182465
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	211	11195	184429
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	211	11195	184429
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SOX5 CL E G H	6660	616803	Lamb-shaffer syndrome	616803	C4225202	OMIM	1	264	11201	604975
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SOX5 CL E G H	6660	616803	Lamb-shaffer syndrome	616803	C4225202	OMIM	1	264	11201	604975
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	363	11204	608160
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	363	11204	608160
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPART CL E G H	23111	101000				ORPHA	1	353	18514	607111
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPART CL E G H	23111	101000				ORPHA	1	353	18514	607111
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	309	29022	614140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	309	29022	614140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPEG CL E G H	10290	169186				ORPHA	1	1482	16901	615950
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPEG CL E G H	10290	169186				ORPHA	1	1482	16901	615950
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPEG CL E G H	10290	615959	Myopathy, centronuclear, 5	615959	C4014814	OMIM	1	1482	16901	615950
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	2267	11273	182810
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	2267	11273	182810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	236	25812	611715
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	236	25812	611715
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SRP54 CL E G H	6729	811	Balo disease			ORPHA	1	204	11301	604857
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SRP54 CL E G H	6729	811	Balo disease			ORPHA	1	204	11301	604857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SSR4 CL E G H	6748	370927				ORPHA	1	319	11326	300090
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SSR4 CL E G H	6748	370927				ORPHA	1	319	11326	300090
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	319	11326	300090
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SSR4 CL E G H	6748	300934	Congenital disorder of glycosylation type 1y	300934	C4012395	OMIM	1	319	11326	300090
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	340	10866	606494
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	340	10866	606494
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ST3GAL5 CL E G H	8869	370938				ORPHA	1	373	10872	604402
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	373	10872	604402
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	373	10872	604402
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	294	30650	610745
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	294	30650	610745
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STT3A CL E G H	3703	370921				ORPHA	1	232	6172	601134
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STT3A CL E G H	3703	370921				ORPHA	1	232	6172	601134
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	232	6172	601134
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STT3A CL E G H	3703	615596	Congenital disorder of glycosylation type 1w	615596	C3810062	OMIM	1	232	6172	601134
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STT3B CL E G H	201595	370924				ORPHA	1	158	30611	608605
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STT3B CL E G H	201595	370924				ORPHA	1	158	30611	608605
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	158	30611	608605
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STT3B CL E G H	201595	615597	Congenital disorder of glycosylation type 1x	615597	C2931007	OMIM	1	158	30611	608605
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STXBP1 CL E G H	6812	442835				ORPHA	1	1017	11444	602926
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STXBP1 CL E G H	6812	442835				ORPHA	1	1017	11444	602926
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	353	11460	606887
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SUOX CL E G H	6821	272300	Sulfite oxidase deficiency	272300	C0268624	OMIM	1	353	11460	606887
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SYNGAP1 CL E G H	8831	442835				ORPHA	1	1335	11497	603384
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SYNGAP1 CL E G H	8831	442835				ORPHA	1	1335	11497	603384
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SYNGAP1 CL E G H	8831	612621	Mental retardation, autosomal dominant 5	612621	C2675473	OMIM	1	1335	11497	603384
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SYNGAP1 CL E G H	8831	612621	Mental retardation, autosomal dominant 5	612621	C2675473	OMIM	1	1335	11497	603384
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SYNJ1 CL E G H	8867	442835				ORPHA	1	1315	11503	604297
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SYNJ1 CL E G H	8867	442835				ORPHA	1	1315	11503	604297
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	1315	11503	604297
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	1315	11503	604297
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SZT2 CL E G H	23334	442835				ORPHA	1	2862	29040	615463
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SZT2 CL E G H	23334	442835				ORPHA	1	2862	29040	615463
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	715	25439	616830
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	241	30740	612805
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TARS2 CL E G H	80222	615918	Combined oxidative phosphorylation deficiency 21	615918	C4014668	OMIM	1	241	30740	612805
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	90	25622	617687
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TBC1D23 CL E G H	55773	617695	PONTOCEREBELLAR HYPOPLASIA, TYPE 11	617695	C4540164	OMIM	1	90	25622	617687
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	893	29203	613577
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	893	29203	613577
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	893	29203	613577
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	893	29203	613577
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TBCE CL E G H	6905	496756				ORPHA	1	456	11582	604934
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	1069	11634	602272
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	1069	11634	602272
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	622	25774	613846
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TCTN2 CL E G H	79867	616654	Joubert syndrome 24	616654	C4084841	OMIM	1	622	25774	613846
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TCTN3 CL E G H	26123	2754				ORPHA	1	473	24519	613847
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TCTN3 CL E G H	26123	2754				ORPHA	1	473	24519	613847
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TDP2 CL E G H	51567	616949	Spinocerebellar ataxia, autosomal recessive 23	616949	C4310780	OMIM	1	55	17768	605764
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TDP2 CL E G H	51567	616949	Spinocerebellar ataxia, autosomal recessive 23	616949	C4310780	OMIM	1	55	17768	605764
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TECPR2 CL E G H	9895	320385				ORPHA	1	1137	19957	615000
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TECPR2 CL E G H	9895	320385				ORPHA	1	1137	19957	615000
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TECPR2 CL E G H	9895	615031	Spastic paraplegia 49, autosomal recessive	615031	C3542549	OMIM	1	1137	19957	615000
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TECPR2 CL E G H	9895	615031	Spastic paraplegia 49, autosomal recessive	615031	C3542549	OMIM	1	1137	19957	615000
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	405	29099	611140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TELO2 CL E G H	9894	616954	You-Hoover-Fong syndrome	616954	C4310778	OMIM	1	405	29099	611140
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	THOC2 CL E G H	57187	300957	Mental retardation, X-linked 12	300957	C0796218	OMIM	1	337	19073	300395
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	THOC2 CL E G H	57187	300957	Mental retardation, X-linked 12	300957	C0796218	OMIM	1	337	19073	300395
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TIMM50 CL E G H	92609	617698	3-METHYLGLUTACONIC ACIDURIA, TYPE IX	617698	C4540171	OMIM	1	357	23656	607381
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TK2 CL E G H	7084	254875				ORPHA	1	442	11831	188250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	442	11831	188250
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	128	22407	613413
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM106B CL E G H	54664	617964	LEUKODYSTROPHY, HYPOMYELINATING, 16	617964	CN244907	OMIM	1	128	22407	613413
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	175	30760	614726
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	175	30760	614726
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM216 CL E G H	51259	2754				ORPHA	1	236	25018	613277
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM216 CL E G H	51259	2754				ORPHA	1	236	25018	613277
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	236	25018	613277
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	928	28396	609884
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	928	28396	609884
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM70 CL E G H	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	614052	C3279699	OMIM	1	325	26050	612418
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TNFRSF11A CL E G H	8792	612301	Osteopetrosis autosomal recessive 7	612301	C2676766	OMIM	1	572	11908	603499
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TNFRSF11A CL E G H	8792	612301	Osteopetrosis autosomal recessive 7	612301	C2676766	OMIM	1	572	11908	603499
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	272	15954	613931
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TOE1 CL E G H	114034	614969	Pontocerebellar hypoplasia, type 7	614969	C3554226	OMIM	1	272	15954	613931
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	220	3098	605204
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TOR1A CL E G H	1861	128100	Dystonia 1	128100	C1851945	OMIM	1	220	3098	605204
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPI1 CL E G H	7167	615512	Triosephosphate isomerase deficiency	615512	C1860808	OMIM	1	181	12009	190450
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	318	17358	606370
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPK1 CL E G H	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	614458	C3280866	OMIM	1	318	17358	606370
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	341	12011	190990
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPM2 CL E G H	7169	609285	Nemaline myopathy 4	609285	C1836447	OMIM	1	341	12011	190990
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRAK1 CL E G H	22906	442835				ORPHA	1	208	29947	608112
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRAK1 CL E G H	22906	442835				ORPHA	1	208	29947	608112
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	983	25751	614138
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRHR CL E G H	7201	99832				ORPHA	1	61	12299	188545
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRIM2 CL E G H	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	615490	C3809655	OMIM	1	404	15974	614141
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRIP4 CL E G H	9325	486815				ORPHA	1	212	12310	604501
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRIP4 CL E G H	9325	616866	Spinal muscular atrophy with congenital bone fractures 1	616866	C4225177	OMIM	1	212	12310	604501
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	54	26022	615423
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRMT10C CL E G H	54931	616974	Combined oxidative phosphorylation deficiency 30	616974	C4310773	OMIM	1	54	26022	615423
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	220	23141	611023
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRMT5 CL E G H	57570	616539	Combined oxidative phosphorylation deficiency 26	616539	C4225290	OMIM	1	220	23141	611023
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRMU CL E G H	55687	254864				ORPHA	1	623	25481	610230
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRMU CL E G H	55687	613070	Liver failure acute infantile	613070	C3278664	OMIM	1	623	25481	610230
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	1	620	17341	612907
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRNT1 CL E G H	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	616084	C4015172	OMIM	1	620	17341	612907
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	542	12340	604386
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRPS1 CL E G H	7227	190350	Trichorhinophalangeal dysplasia type I	190350	C0432233	OMIM	1	542	12340	604386
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TSEN15 CL E G H	116461	617026	Pontocerebellar hypoplasia, type 2f	617026	C4310757	OMIM	1	65	16791	608756
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TSEN15 CL E G H	116461	617026	Pontocerebellar hypoplasia, type 2f	617026	C4310757	OMIM	1	65	16791	608756
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	280	28422	608753
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TSHB CL E G H	7252	275100	Secondary hypothyroidism	275100	C0271789	OMIM	1	35	12372	188540
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TSHB CL E G H	7252	275100	Secondary hypothyroidism	275100	C0271789	OMIM	1	35	12372	188540
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TTN CL E G H	7273	169186				ORPHA	1	27503	12403	188840
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TTN CL E G H	7273	324604				ORPHA	1	27503	12403	188840
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TTN CL E G H	7273	324604				ORPHA	1	27503	12403	188840
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TTN CL E G H	7273	169186				ORPHA	1	27503	12403	188840
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TUBA1A CL E G H	7846	611603	Lissencephaly 3	611603	C1969029	OMIM	1	325	20766	602529
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TUBA1A CL E G H	7846	611603	Lissencephaly 3	611603	C1969029	OMIM	1	325	20766	602529
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TUBB2A CL E G H	7280	615763	Cortical dysplasia, complex, with other brain malformations 5	615763	C3810407	OMIM	1	298	12412	615101
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TUBB2A CL E G H	7280	615763	Cortical dysplasia, complex, with other brain malformations 5	615763	C3810407	OMIM	1	298	12412	615101
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UBA5 CL E G H	79876	442835				ORPHA	1	223	23230	610552
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UBA5 CL E G H	79876	442835				ORPHA	1	223	23230	610552
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UBA5 CL E G H	79876	617132	Epileptic encephalopathy, early infantile, 44	617132	C4310700	OMIM	1	223	23230	610552
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	1108	12496	601623
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	1108	12496	601623
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	1	316	13478	608047
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	1	316	13478	608047
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UBR1 CL E G H	197131	243800	Johanson-Blizzard syndrome	243800	C0175692	OMIM	1	350	16808	605981
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UQCC3 CL E G H	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	616111	C4015253	OMIM	1	39	34399	616097
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	102	29594	612080
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	UQCRQ CL E G H	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	615159	C3554607	OMIM	1	102	29594	612080
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	USP18 CL E G H	11274	617397	Pseudo-torch syndrome 2	617397	C4479376	OMIM	1	165	12616	607057
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	USP9X CL E G H	8239	300919	Mental retardation, X-linked 99	300919	C3806746	OMIM	1	776	12632	300072
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	USP9X CL E G H	8239	300919	Mental retardation, X-linked 99	300919	C3806746	OMIM	1	776	12632	300072
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	1	438	21642	612802
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	1	438	21642	612802
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VDR CL E G H	7421	277440	Vitamin D-dependent rickets, type 2	277440	C0342646	OMIM	1	345	12679	601769
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VIPAS39 CL E G H	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	613404	C3150672	OMIM	1	221	20347	613401
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	575	12698	192977
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VLDLR CL E G H	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	224050	CN074243	OMIM	1	575	12698	192977
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VPS33B CL E G H	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	208085	C1859722	OMIM	1	369	12712	608552
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	461	12718	602168
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	VRK1 CL E G H	7443	607596	Pontocerebellar hypoplasia type 1A	607596	CN032785	OMIM	1	461	12718	602168
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	276	17327	615049
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	276	17327	615049
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	WASHC5 CL E G H	9897	220210	Dandy-Walker like malformation with atrioventricular septal defect	220210	C0796137	OMIM	1	638	28984	610657
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	WASHC5 CL E G H	9897	220210	Dandy-Walker like malformation with atrioventricular septal defect	220210	C0796137	OMIM	1	638	28984	610657
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1716	14540	605232
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	WNK1 CL E G H	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	1716	14540	605232
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	WWOX CL E G H	51741	442835				ORPHA	1	1102	12799	605131
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	WWOX CL E G H	51741	442835				ORPHA	1	1102	12799	605131
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	YWHAG CL E G H	7532	442835				ORPHA	1	189	12852	605356
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	YWHAG CL E G H	7532	442835				ORPHA	1	189	12852	605356
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZBTB18 CL E G H	10472	612337	Mental retardation, autosomal dominant 22	612337	C2676727	OMIM	1	282	13030	608433
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZBTB18 CL E G H	10472	612337	Mental retardation, autosomal dominant 22	612337	C2676727	OMIM	1	282	13030	608433
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	1	129	12872	600470
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	1	129	12872	600470
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZNF148 CL E G H	7707	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	617260	C4310644	OMIM	1	86	12933	601897
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZNF148 CL E G H	7707	617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	617260	C4310644	OMIM	1	86	12933	601897
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	136	12309	604500
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZNHIT3 CL E G H	9326	260565	PEHO syndrome	260565	C1850055	OMIM	1	136	12309	604500
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	659	29316	615951
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ZSWIM6 CL E G H	57688	617865	NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES	617865	CN800196	OMIM	1	659	29316	615951
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001290	HP:0001290	Generalized hypotonia	0	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0001290	HP:0001290	Generalized hypotonia	0	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	0	335	23159	607905
HP:0001290	HP:0001290	Generalized hypotonia	0	AMPD1 CL E G H	270	615511	Muscle AMP deaminase deficiency	615511	C0268123	OMIM	0	452	468	102770
HP:0001290	HP:0001290	Generalized hypotonia	0	APC CL E G H	324	261584				ORPHA	0	13157	583	611731
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP1A3 CL E G H	478	71517				ORPHA	0	993	801	182350
HP:0001290	HP:0001290	Generalized hypotonia	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	0	167	854	606939
HP:0001290	HP:0001290	Generalized hypotonia	0	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0001290	HP:0001290	Generalized hypotonia	0	ATXN10 CL E G H	25814	98761				ORPHA	0	116	10549	611150
HP:0001290	HP:0001290	Generalized hypotonia	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	219	923	606374
HP:0001290	HP:0001290	Generalized hypotonia	0	BMP1 CL E G H	649	614856	Osteogenesis imperfecta, type xiii	614856	C3553887	OMIM	0	549	1067	112264
HP:0001290	HP:0001290	Generalized hypotonia	0	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0001290	HP:0001290	Generalized hypotonia	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0001290	HP:0001290	Generalized hypotonia	0	CEP104 CL E G H	9731	616781	Joubert syndrome 25	616781	C4084842	OMIM	0	506	24866	616690
HP:0001290	HP:0001290	Generalized hypotonia	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0001290	HP:0001290	Generalized hypotonia	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	445	1971	603799
HP:0001290	HP:0001290	Generalized hypotonia	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	0	434	20603	608172
HP:0001290	HP:0001290	Generalized hypotonia	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	0	1221	2876	602121
HP:0001290	HP:0001290	Generalized hypotonia	0	DYRK1A CL E G H	1859	614104	Mental retardation, autosomal dominant 7	614104	C3279839	OMIM	0	905	3091	600855
HP:0001290	HP:0001290	Generalized hypotonia	0	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0001290	HP:0001290	Generalized hypotonia	0	ERF CL E G H	2077	617180	Chitayat syndrome	617180	C4310679	OMIM	0	178	3444	611888
HP:0001290	HP:0001290	Generalized hypotonia	0	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	0	375	14074	606373
HP:0001290	HP:0001290	Generalized hypotonia	0	FRA16E CL E G H	2464	136570	Chromosome 16p12.1 deletion syndrome, 520-kb	136570	C3149276	OMIM	0		3861	0
HP:0001290	HP:0001290	Generalized hypotonia	0	GLRX5 CL E G H	51218	401866				ORPHA	0	111	20134	609588
HP:0001290	HP:0001290	Generalized hypotonia	0	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	0	150	22923	615495
HP:0001290	HP:0001290	Generalized hypotonia	0	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0001290	HP:0001290	Generalized hypotonia	0	GNB5 CL E G H	10681	617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	617182	C4310678	OMIM	0	163	4401	604447
HP:0001290	HP:0001290	Generalized hypotonia	0	HADHA CL E G H	3030	5				ORPHA	0	792	4801	600890
HP:0001290	HP:0001290	Generalized hypotonia	0	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0001290	HP:0001290	Generalized hypotonia	0	IFT81 CL E G H	28981	617895	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	617895	CN842245	OMIM	0	397	14313	605489
HP:0001290	HP:0001290	Generalized hypotonia	0	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0001290	HP:0001290	Generalized hypotonia	0	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0001290	HP:0001290	Generalized hypotonia	0	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	916	12637	300128
HP:0001290	HP:0001290	Generalized hypotonia	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	0		29068	616650
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0001290	HP:0001290	Generalized hypotonia	0	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0001290	HP:0001290	Generalized hypotonia	0	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0001290	HP:0001290	Generalized hypotonia	0	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	0	1264	6481	150320
HP:0001290	HP:0001290	Generalized hypotonia	0	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001290	HP:0001290	Generalized hypotonia	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0001290	HP:0001290	Generalized hypotonia	0	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	0	243	29666	611766
HP:0001290	HP:0001290	Generalized hypotonia	0	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0001290	HP:0001290	Generalized hypotonia	0	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0001290	HP:0001290	Generalized hypotonia	0	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0001290	HP:0001290	Generalized hypotonia	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	0	803	8851	602859
HP:0001290	HP:0001290	Generalized hypotonia	0	PIGS CL E G H	94005	618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18	618143		OMIM	0	69	14937	610271
HP:0001290	HP:0001290	Generalized hypotonia	0	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0001290	HP:0001290	Generalized hypotonia	0	PLEKHG2 CL E G H	64857	616763	Leukodystrophy and acquired microcephaly with or without dystonia	616763	C4225213	OMIM	0	408	29515	611893
HP:0001290	HP:0001290	Generalized hypotonia	0	POC1A CL E G H	25886	614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	614813	C3542022	OMIM	0	156	24488	614783
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0001290	HP:0001290	Generalized hypotonia	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	357	9180	604983
HP:0001290	HP:0001290	Generalized hypotonia	0	PPA2 CL E G H	27068	617222	Sudden cardiac failure, infantile	617222	C4310664	OMIM	0	337	28883	609988
HP:0001290	HP:0001290	Generalized hypotonia	0	PRNP CL E G H	5621	157941				ORPHA	0	191	9449	176640
HP:0001290	HP:0001290	Generalized hypotonia	0	PUF60 CL E G H	22827	508488				ORPHA	0	228	17042	604819
HP:0001290	HP:0001290	Generalized hypotonia	0	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0001290	HP:0001290	Generalized hypotonia	0	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	0	139	29420	616585
HP:0001290	HP:0001290	Generalized hypotonia	0	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0001290	HP:0001290	Generalized hypotonia	0	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0001290	HP:0001290	Generalized hypotonia	0	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0001290	HP:0001290	Generalized hypotonia	0	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0001290	HP:0001290	Generalized hypotonia	0	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	0	568	10808	604149
HP:0001290	HP:0001290	Generalized hypotonia	0	SHOC2 CL E G H	8036	607721	Noonan syndrome-like disorder with loose anagen hair 1	607721	C1843181	OMIM	0	452	15454	602775
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	0	142	20661	611037
HP:0001290	HP:0001290	Generalized hypotonia	0	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0001290	HP:0001290	Generalized hypotonia	0	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	0	938	11276	604985
HP:0001290	HP:0001290	Generalized hypotonia	0	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	337	11429	605014
HP:0001290	HP:0001290	Generalized hypotonia	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	534	11535	313650
HP:0001290	HP:0001290	Generalized hypotonia	0	TDP2 CL E G H	51567	404493				ORPHA	0	55	17768	605764
HP:0001290	HP:0001290	Generalized hypotonia	0	TH CL E G H	7054	101150				ORPHA	0	967	11782	191290
HP:0001290	HP:0001290	Generalized hypotonia	0	TKT CL E G H	7086	617044	Short stature, developmental delay, and congenital heart defects	617044	C4310751	OMIM	0	79	11834	606781
HP:0001290	HP:0001290	Generalized hypotonia	0	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	82	18085	616815
HP:0001290	HP:0001290	Generalized hypotonia	0	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0001290	HP:0001290	Generalized hypotonia	0	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0001290	HP:0001290	Generalized hypotonia	0	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0001290	HP:0001290	Generalized hypotonia	0	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0001290	HP:0001290	Generalized hypotonia	0	TRMT1 CL E G H	55621	618302	618302	618302		OMIM	0	138	25980	611669
HP:0001290	HP:0001290	Generalized hypotonia	0	TUBB CL E G H	203068	156610	Michelin-tire baby	156610	C0473586	OMIM	0	94	20778	191130
HP:0001290	HP:0001290	Generalized hypotonia	0	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0001290	HP:0001290	Generalized hypotonia	0	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	0	776	12632	300072
HP:0001290	HP:0001290	Generalized hypotonia	0	XYLT1 CL E G H	64131	615777	Desbuquois dysplasia 2	615777	C4014294	OMIM	0	570	15516	608124
HP:0001290	HP:0001290	Generalized hypotonia	0	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	0	177	12843	607472
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	0	335	23159	607905
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ALG2 CL E G H	85365	616228	Myasthenic syndrome, congenital, 14	616228	C4015597	OMIM	0	335	23159	607905
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	AMPD1 CL E G H	270	615511	Muscle AMP deaminase deficiency	615511	C0268123	OMIM	0	452	468	102770
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	AMPD1 CL E G H	270	615511	Muscle AMP deaminase deficiency	615511	C0268123	OMIM	0	452	468	102770
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	APC CL E G H	324	261584				ORPHA	0	13157	583	611731
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	APC CL E G H	324	261584				ORPHA	0	13157	583	611731
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP1A3 CL E G H	478	71517				ORPHA	0	993	801	182350
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP1A3 CL E G H	478	71517				ORPHA	0	993	801	182350
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	0	167	854	606939
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	0	167	854	606939
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATXN1 CL E G H	6310	98755				ORPHA	0	120	10548	601556
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ATXN10 CL E G H	25814	98761				ORPHA	0	116	10549	611150
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ATXN10 CL E G H	25814	98761				ORPHA	0	116	10549	611150
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	219	923	606374
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	219	923	606374
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	BMP1 CL E G H	649	614856	Osteogenesis imperfecta, type xiii	614856	C3553887	OMIM	0	549	1067	112264
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	BMP1 CL E G H	649	614856	Osteogenesis imperfecta, type xiii	614856	C3553887	OMIM	0	549	1067	112264
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CACNA1C CL E G H	775	601005	Timothy syndrome	601005	C1832916	OMIM	0	2616	1390	114205
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CEP104 CL E G H	9731	616781	Joubert syndrome 25	616781	C4084842	OMIM	0	506	24866	616690
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CEP104 CL E G H	9731	616781	Joubert syndrome 25	616781	C4084842	OMIM	0	506	24866	616690
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	0	402	30794	607951
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	445	1971	603799
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	0	445	1971	603799
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	0	434	20603	608172
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	0	434	20603	608172
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	0	1221	2876	602121
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	0	1221	2876	602121
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	DYRK1A CL E G H	1859	614104	Mental retardation, autosomal dominant 7	614104	C3279839	OMIM	0	905	3091	600855
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	DYRK1A CL E G H	1859	614104	Mental retardation, autosomal dominant 7	614104	C3279839	OMIM	0	905	3091	600855
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	ERF CL E G H	2077	617180	Chitayat syndrome	617180	C4310679	OMIM	0	178	3444	611888
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	ERF CL E G H	2077	617180	Chitayat syndrome	617180	C4310679	OMIM	0	178	3444	611888
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	0	375	14074	606373
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FMN2 CL E G H	56776	616193	Mental retardation, autosomal recessive 47	616193	C4015444	OMIM	0	375	14074	606373
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	FRA16E CL E G H	2464	136570	Chromosome 16p12.1 deletion syndrome, 520-kb	136570	C3149276	OMIM	0		3861	0
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	FRA16E CL E G H	2464	136570	Chromosome 16p12.1 deletion syndrome, 520-kb	136570	C3149276	OMIM	0		3861	0
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GLRX5 CL E G H	51218	401866				ORPHA	0	111	20134	609588
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GLRX5 CL E G H	51218	401866				ORPHA	0	111	20134	609588
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	0	150	22923	615495
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GMPPA CL E G H	29926	615510	Alacrima, achalasia, and mental retardation syndrome	615510	C3809738	OMIM	0	150	22923	615495
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	GNB5 CL E G H	10681	617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	617182	C4310678	OMIM	0	163	4401	604447
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	GNB5 CL E G H	10681	617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	617182	C4310678	OMIM	0	163	4401	604447
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HADHA CL E G H	3030	5				ORPHA	0	792	4801	600890
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HADHA CL E G H	3030	5				ORPHA	0	792	4801	600890
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	IFT81 CL E G H	28981	617895	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	617895	CN842245	OMIM	0	397	14313	605489
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	IFT81 CL E G H	28981	617895	SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY	617895	CN842245	OMIM	0	397	14313	605489
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KCNMA1 CL E G H	3778	79137				ORPHA	0	1097	6284	600150
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	916	12637	300128
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	0	916	12637	300128
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	0		29068	616650
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	0		29068	616650
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF1A CL E G H	547	614255	Mental retardation, autosomal dominant 9	614255	C3280283	OMIM	0	2622	888	601255
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KIF7 CL E G H	374654	200990	Acrocallosal syndrome, Schinzel type	200990	C0796147	OMIM	0	1401	30497	611254
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	0	1264	6481	150320
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	0	1264	6481	150320
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	0	243	29666	611766
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	0	243	29666	611766
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	MYPN CL E G H	84665	171881				ORPHA	0	1485	23246	608517
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	0	803	8851	602859
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	0	803	8851	602859
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PIGS CL E G H	94005	618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18	618143		OMIM	0	69	14937	610271
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PIGS CL E G H	94005	618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18	618143		OMIM	0	69	14937	610271
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PLEKHG2 CL E G H	64857	616763	Leukodystrophy and acquired microcephaly with or without dystonia	616763	C4225213	OMIM	0	408	29515	611893
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PLEKHG2 CL E G H	64857	616763	Leukodystrophy and acquired microcephaly with or without dystonia	616763	C4225213	OMIM	0	408	29515	611893
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POC1A CL E G H	25886	614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	614813	C3542022	OMIM	0	156	24488	614783
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POC1A CL E G H	25886	614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	614813	C3542022	OMIM	0	156	24488	614783
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG CL E G H	5428	254892				ORPHA	0	2324	9179	174763
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG2 CL E G H	11232	254892				ORPHA	0	357	9180	604983
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	357	9180	604983
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	0	357	9180	604983
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PPA2 CL E G H	27068	617222	Sudden cardiac failure, infantile	617222	C4310664	OMIM	0	337	28883	609988
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PPA2 CL E G H	27068	617222	Sudden cardiac failure, infantile	617222	C4310664	OMIM	0	337	28883	609988
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PRNP CL E G H	5621	157941				ORPHA	0	191	9449	176640
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PRNP CL E G H	5621	157941				ORPHA	0	191	9449	176640
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	PUF60 CL E G H	22827	508488				ORPHA	0	228	17042	604819
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	PUF60 CL E G H	22827	508488				ORPHA	0	228	17042	604819
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RRM2B CL E G H	50484	254892				ORPHA	0	354	17296	604712
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	0	139	29420	616585
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	0	139	29420	616585
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SDHA CL E G H	6389	3208				ORPHA	0	2503	10680	600857
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SDHAF1 CL E G H	644096	3208				ORPHA	0	77	33867	612848
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SDHB CL E G H	6390	3208				ORPHA	0	1249	10681	185470
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SDHD CL E G H	6392	3208				ORPHA	0	686	10683	602690
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	0	568	10808	604149
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SGCE CL E G H	8910	159900	Myoclonic dystonia	159900	C1834570	OMIM	0	568	10808	604149
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SHOC2 CL E G H	8036	607721	Noonan syndrome-like disorder with loose anagen hair 1	607721	C1843181	OMIM	0	452	15454	602775
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SHOC2 CL E G H	8036	607721	Noonan syndrome-like disorder with loose anagen hair 1	607721	C1843181	OMIM	0	452	15454	602775
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	0	142	20661	611037
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	0	142	20661	611037
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SLC25A4 CL E G H	291	254892				ORPHA	0	333	10990	103220
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	0	938	11276	604985
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	SPTBN2 CL E G H	6712	600224	Spinocerebellar ataxia 5	600224	C0752123	OMIM	0	938	11276	604985
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	337	11429	605014
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	STX11 CL E G H	8676	603552	Hemophagocytic lymphohistiocytosis, familial, 4	603552	C1863728	OMIM	0	337	11429	605014
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	534	11535	313650
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	534	11535	313650
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TDP2 CL E G H	51567	404493				ORPHA	0	55	17768	605764
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TDP2 CL E G H	51567	404493				ORPHA	0	55	17768	605764
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TH CL E G H	7054	101150				ORPHA	0	967	11782	191290
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TH CL E G H	7054	101150				ORPHA	0	967	11782	191290
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TKT CL E G H	7086	617044	Short stature, developmental delay, and congenital heart defects	617044	C4310751	OMIM	0	79	11834	606781
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TKT CL E G H	7086	617044	Short stature, developmental delay, and congenital heart defects	617044	C4310751	OMIM	0	79	11834	606781
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	82	18085	616815
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TMEM199 CL E G H	147007	616829	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp	616829	C4225190	OMIM	0	82	18085	616815
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPM2 CL E G H	7169	171881				ORPHA	0	341	12011	190990
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TPM3 CL E G H	7170	171881				ORPHA	0	343	12012	191030
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TRMT1 CL E G H	55621	618302	618302	618302		OMIM	0	138	25980	611669
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TRMT1 CL E G H	55621	618302	618302	618302		OMIM	0	138	25980	611669
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TUBB CL E G H	203068	156610	Michelin-tire baby	156610	C0473586	OMIM	0	94	20778	191130
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TUBB CL E G H	203068	156610	Michelin-tire baby	156610	C0473586	OMIM	0	94	20778	191130
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	TWNK CL E G H	56652	254892				ORPHA	0	450	1160	606075
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	0	776	12632	300072
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	0	776	12632	300072
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	XYLT1 CL E G H	64131	615777	Desbuquois dysplasia 2	615777	C4014294	OMIM	0	570	15516	608124
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	XYLT1 CL E G H	64131	615777	Desbuquois dysplasia 2	615777	C4014294	OMIM	0	570	15516	608124
HP:0001290	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	0	177	12843	607472
HP:0001290	HP:0006852	Episodic generalized hypotonia	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	0	177	12843	607472