Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001252	HP:0001252	Muscular hypotonia	0	A2ML1 CL E G H	144568	648				ORPHA	1	21	492	23336	610627
HP:0001252	HP:0001252	Muscular hypotonia	0	AASS CL E G H	10157	238700	Hyperlysinemia	238700	C0268553	OMIM	1	14	66	17366	605113
HP:0001252	HP:0001252	Muscular hypotonia	0	ACAD8 CL E G H	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	611283	C1969809	OMIM	1	26	216	87	604773
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADM CL E G H	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	201450	C0220710	OMIM	1	171	389	89	607008
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADS CL E G H	35	201470	Deficiency of butyryl-CoA dehydrogenase	201470	C0342783	OMIM	1	85	216	90	606885
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADSB CL E G H	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	610006	C1864912	OMIM	1	15	229	91	600301
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	283	767	92	609575
HP:0001252	HP:0001252	Muscular hypotonia	0	ACOX1 CL E G H	51	2971				ORPHA	1	26	257	119	609751
HP:0001252	HP:0001252	Muscular hypotonia	0	ACP2 CL E G H	53	200950	Acid phosphatase deficiency	200950	C0268410	OMIM	1	3	23	123	171650
HP:0001252	HP:0001252	Muscular hypotonia	0	ACSL4 CL E G H	2182	86818				ORPHA	1	7	209	3571	300157
HP:0001252	HP:0001252	Muscular hypotonia	0	ACTA1 CL E G H	58	2020				ORPHA	1	217	272	129	102610
HP:0001252	HP:0001252	Muscular hypotonia	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	224	132	102630
HP:0001252	HP:0001252	Muscular hypotonia	0	ACY1 CL E G H	95	137754				ORPHA	1	15	57	177	104620
HP:0001252	HP:0001252	Muscular hypotonia	0	ACY1 CL E G H	95	609924	Aminoacylase 1 deficiency	609924	C1835922	OMIM	1	15	57	177	104620
HP:0001252	HP:0001252	Muscular hypotonia	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	12	577	218	604539
HP:0001252	HP:0001252	Muscular hypotonia	0	ADCY6 CL E G H	112	2680				ORPHA	1	4	45	237	600294
HP:0001252	HP:0001252	Muscular hypotonia	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	38	239	318	613228
HP:0001252	HP:0001252	Muscular hypotonia	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1 CL E G H	54806	220493				ORPHA	1	96	422	21575	608894
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	1	96	422	21575	608894
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	422	21575	608894
HP:0001252	HP:0001252	Muscular hypotonia	0	AHSG CL E G H	197	2850				ORPHA	1	6	57	349	138680
HP:0001252	HP:0001252	Muscular hypotonia	0	AIPL1 CL E G H	23746	65				ORPHA	1	79	232	359	604392
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	33	252	9722	138250
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH5A1 CL E G H	7915	22	AFib amyloidosis		CN244920	ORPHA	1	75	334	408	610045
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH5A1 CL E G H	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	271980	C0268631	OMIM	1	75	334	408	610045
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH7A1 CL E G H	501	3006				ORPHA	1	129	498	877	107323
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH7A1 CL E G H	501	266100	Pyridoxine-dependent epilepsy	266100	C1849508	OMIM	1	129	498	877	107323
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG1 CL E G H	56052	608540	Congenital disorder of glycosylation type 1K	608540	C2931005	OMIM	1	44	168	18294	605907
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG12 CL E G H	79087	79324				ORPHA	1	16	263	19358	607144
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG3 CL E G H	10195	79321				ORPHA	1	19	123	23056	608750
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG6 CL E G H	29929	79320				ORPHA	1	26	197	23157	604566
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG9 CL E G H	79796	79328				ORPHA	1	4	160	15672	606941
HP:0001252	HP:0001252	Muscular hypotonia	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	295	328	438	171760
HP:0001252	HP:0001252	Muscular hypotonia	0	AMMECR1 CL E G H	9949	86818				ORPHA	1	5	181	467	300195
HP:0001252	HP:0001252	Muscular hypotonia	0	AMT CL E G H	275	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	96	208	473	238310
HP:0001252	HP:0001252	Muscular hypotonia	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	48	204	21732	608041
HP:0001252	HP:0001252	Muscular hypotonia	0	AP1S2 CL E G H	8905	85335				ORPHA	1	14	204	560	300629
HP:0001252	HP:0001252	Muscular hypotonia	0	APC2 CL E G H	10297	821				ORPHA	1	3	156	24036	612034
HP:0001252	HP:0001252	Muscular 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		93	20492	616003
HP:0001252	HP:0001252	Muscular hypotonia	0	AR CL E G H	367	481				ORPHA	1	627	400	644	313700
HP:0001252	HP:0001252	Muscular hypotonia	0	ARHGAP31 CL E G H	57514	100300	Adams-Oliver syndrome 1	100300	CN028867	OMIM	1	7	103	29216	610911
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1A CL E G H	8289	1465				ORPHA	1	36	175	11110	603024
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1B CL E G H	57492	1465				ORPHA	1	188	575	18040	614556
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID2 CL E G H	196528	1465				ORPHA	1	11	115	18037	609539
HP:0001252	HP:0001252	Muscular hypotonia	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	1	10	120	25419	608922
HP:0001252	HP:0001252	Muscular hypotonia	0	ARL13B CL E G H	200894	612291	Joubert syndrome 8	612291	C2676771	OMIM	1	10	120	25419	608922
HP:0001252	HP:0001252	Muscular hypotonia	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	1	3	33	694	604695
HP:0001252	HP:0001252	Muscular hypotonia	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	1	11	105	20730	617612
HP:0001252	HP:0001252	Muscular hypotonia	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	254	567	713	607574
HP:0001252	HP:0001252	Muscular hypotonia	0	ARVCF CL E G H	421	567				ORPHA	1	2	477	728	602269
HP:0001252	HP:0001252	Muscular hypotonia	0	ARX CL E G H	170302	452				ORPHA	1	98	466	18060	300382
HP:0001252	HP:0001252	Muscular hypotonia	0	ARX CL E G H	170302	300215	Lissencephaly 2, X-linked	300215	C1846171	OMIM	1	98	466	18060	300382
HP:0001252	HP:0001252	Muscular hypotonia	0	ASCL1 CL E G H	429	99803	Haddad syndrome		C1859587	ORPHA	1	6	30	738	100790
HP:0001252	HP:0001252	Muscular hypotonia	0	ASPA CL E G H	443	314911				ORPHA	1	102	177	756	608034
HP:0001252	HP:0001252	Muscular hypotonia	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	102	177	756	608034
HP:0001252	HP:0001252	Muscular hypotonia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	199	18318	612990
HP:0001252	HP:0001252	Muscular hypotonia	0	ATCAY CL E G H	85300	601238	Cerebellar ataxia, Cayman type	601238	C1832585	OMIM	1	3	172	779	608179
HP:0001252	HP:0001252	Muscular hypotonia	0	ATIC CL E G H	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	608688	C1837530	OMIM	1	8	57	794	601731
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	56	309	18481	611716
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	56	309	18481	611716
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP7A CL E G H	538	565				ORPHA	1	357	607	869	300011
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP7A CL E G H	538	198				ORPHA	1	357	607	869	300011
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	11	91	13533	605870
HP:0001252	HP:0001252	Muscular hypotonia	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	187	18802	608918
HP:0001252	HP:0001252	Muscular hypotonia	0	ATRX CL E G H	546	847				ORPHA	1	170	663	886	300032
HP:0001252	HP:0001252	Muscular hypotonia	0	ATXN1 CL E G H	6310	164400	Spinocerebellar ataxia 1	164400	C0752120	OMIM	1	7	69	10548	601556
HP:0001252	HP:0001252	Muscular hypotonia	0	ATXN2 CL E G H	6311	183090	Spinocerebellar ataxia 2	183090	C0752121	OMIM	1	44	49	10555	601517
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALNT2 CL E G H	148789	899				ORPHA	1	16	221	28596	610194
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	221	28596	610194
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	40	232	17978	615291
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	40	232	17978	615291
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	13	43	923	606374
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT1 CL E G H	2683	79332				ORPHA	1	2	111	924	137060
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	2	111	924	137060
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	9	138	930	604327
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	9	138	930	604327
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GAT1 CL E G H	11041	899				ORPHA	1	7	84	15685	605517
HP:0001252	HP:0001252	Muscular hypotonia	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	1	10	158	24123	614144
HP:0001252	HP:0001252	Muscular hypotonia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	187	961	605681
HP:0001252	HP:0001252	Muscular hypotonia	0	BCKDHA CL E G H	593	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	101	255	986	608348
HP:0001252	HP:0001252	Muscular hypotonia	0	BCKDHB CL E G H	594	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	115	319	987	248611
HP:0001252	HP:0001252	Muscular hypotonia	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	174	1020	603647
HP:0001252	HP:0001252	Muscular hypotonia	0	BCS1L CL E G H	617	124000	Mitochondrial complex III deficiency	124000	C1852372	OMIM	1	37	174	1020	603647
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF CL E G H	673	648				ORPHA	1	68	490	1097	164757
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	490	1097	164757
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	490	1097	164757
HP:0001252	HP:0001252	Muscular hypotonia	0	BRWD3 CL E G H	254065	300659	Mental retardation, X-linked 93	300659	C1970841	OMIM	1	18	343	17342	300553
HP:0001252	HP:0001252	Muscular hypotonia	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	24	114	16512	606412
HP:0001252	HP:0001252	Muscular hypotonia	0	BTD CL E G H	686	79241				ORPHA	1	248	371	1122	609019
HP:0001252	HP:0001252	Muscular hypotonia	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	371	1122	609019
HP:0001252	HP:0001252	Muscular hypotonia	0	CA8 CL E G H	767	1766				ORPHA	1	4	45	1382	114815
HP:0001252	HP:0001252	Muscular hypotonia	0	CAMKMT CL E G H	79823	163693				ORPHA	1		32	26276	609559
HP:0001252	HP:0001252	Muscular hypotonia	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	28	166	19721	613165
HP:0001252	HP:0001252	Muscular hypotonia	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	410	955	1514	601199
HP:0001252	HP:0001252	Muscular hypotonia	0	CASR CL E G H	846	239200	Neonatal severe hyperparathyroidism	239200	C1832615	OMIM	1	410	955	1514	601199
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A CL E G H	57545	2318				ORPHA	1	96	584	29253	612013
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	584	29253	612013
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	584	29253	612013
HP:0001252	HP:0001252	Muscular hypotonia	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	7	221	28909	300859
HP:0001252	HP:0001252	Muscular hypotonia	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	3	47	16892	606037
HP:0001252	HP:0001252	Muscular hypotonia	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	3	47	16892	606037
HP:0001252	HP:0001252	Muscular hypotonia	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	388	1046	11411	300203
HP:0001252	HP:0001252	Muscular hypotonia	0	CDKN1C CL E G H	1028	85173				ORPHA	1	81	471	1786	600856
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	1	7	152	24866	616690
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP120 CL E G H	153241	220493				ORPHA	1	9	87	26690	613446
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	1	9	87	26690	613446
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290 CL E G H	80184	2318				ORPHA	1	310	884	29021	610142
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290 CL E G H	80184	65				ORPHA	1	310	884	29021	610142
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290 CL E G H	80184	610188	Joubert syndrome 5	610188	C1857780	OMIM	1	310	884	29021	610142
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP41 CL E G H	95681	220493				ORPHA	1	11	232	12370	610523
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	1	11	232	12370	610523
HP:0001252	HP:0001252	Muscular hypotonia	0	CFL2 CL E G H	1073	610687	Nemaline myopathy 7	610687	C1853154	OMIM	1	9	108	1875	601443
HP:0001252	HP:0001252	Muscular hypotonia	0	CHD7 CL E G H	55636	138				ORPHA	1	884	1266	20626	608892
HP:0001252	HP:0001252	Muscular hypotonia	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	39	265	1971	603799
HP:0001252	HP:0001252	Muscular hypotonia	0	CKAP2L CL E G H	150468	3255	Limb scalp and skull defects			ORPHA	1	7	42	26877	616174
HP:0001252	HP:0001252	Muscular hypotonia	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	6	105	2026	602024
HP:0001252	HP:0001252	Muscular hypotonia	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	152	166	2027	602023
HP:0001252	HP:0001252	Muscular hypotonia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	174	2586	603432
HP:0001252	HP:0001252	Muscular hypotonia	0	CNTNAP1 CL E G H	8506	2680				ORPHA	1	21	75	8011	602346
HP:0001252	HP:0001252	Muscular hypotonia	0	COA6 CL E G H	388753	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	616501	C4225304	OMIM	1	3	59	18025	614772
HP:0001252	HP:0001252	Muscular 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	7	19	25716	615623
HP:0001252	HP:0001252	Muscular hypotonia	0	COG1 CL E G H	9382	611209	COG1 congenital disorder of glycosylation	611209	C1970016	OMIM	1	3	134	6545	606973
HP:0001252	HP:0001252	Muscular hypotonia	0	COG5 CL E G H	10466	613612	Congenital disorder of glycosylation type 2i	613612	C3150876	OMIM	1	13	219	14857	606821
HP:0001252	HP:0001252	Muscular hypotonia	0	COG7 CL E G H	91949	79333				ORPHA	1	5	159	18622	606978
HP:0001252	HP:0001252	Muscular hypotonia	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	7	122	18623	606979
HP:0001252	HP:0001252	Muscular hypotonia	0	COL1A1 CL E G H	1277	1899				ORPHA	1	967	1105	2197	120150
HP:0001252	HP:0001252	Muscular hypotonia	0	COL1A1 CL E G H	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	130060	C0268345	OMIM	1	967	1105	2197	120150
HP:0001252	HP:0001252	Muscular hypotonia	0	COL1A2 CL E G H	1278	1899				ORPHA	1	523	794	2198	120160
HP:0001252	HP:0001252	Muscular hypotonia	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	570	731	2200	120140
HP:0001252	HP:0001252	Muscular hypotonia	0	COL4A1 CL E G H	1282	899				ORPHA	1	114	498	2202	120130
HP:0001252	HP:0001252	Muscular hypotonia	0	COLQ CL E G H	8292	98915				ORPHA	1	70	262	2226	603033
HP:0001252	HP:0001252	Muscular hypotonia	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	70	262	2226	603033
HP:0001252	HP:0001252	Muscular hypotonia	0	COMT CL E G H	1312	567				ORPHA	1	15	555	2228	116790
HP:0001252	HP:0001252	Muscular hypotonia	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	49	2244	601683
HP:0001252	HP:0001252	Muscular 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	13	208	2260	602125
HP:0001252	HP:0001252	Muscular hypotonia	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	208	2260	602125
HP:0001252	HP:0001252	Muscular 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	1	14	28216	614478
HP:0001252	HP:0001252	Muscular hypotonia	0	COX15 CL E G H	1355	255241				ORPHA	1	5	188	2263	603646
HP:0001252	HP:0001252	Muscular hypotonia	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	188	2263	603646
HP:0001252	HP:0001252	Muscular 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	1	127	26970	614698
HP:0001252	HP:0001252	Muscular 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	3	34	2280	124089
HP:0001252	HP:0001252	Muscular 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	1	12	2294	123870
HP:0001252	HP:0001252	Muscular hypotonia	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	1	118	594	25801	614571
HP:0001252	HP:0001252	Muscular hypotonia	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	118	594	25801	614571
HP:0001252	HP:0001252	Muscular hypotonia	0	CPS1 CL E G H	1373	147				ORPHA	1	276	445	2323	608307
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT1A CL E G H	1374	156				ORPHA	1	53	239	2328	600528
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	53	239	2328	600528
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT2 CL E G H	1376	228308				ORPHA	1	113	366	2330	600650
HP:0001252	HP:0001252	Muscular hypotonia	0	CRB1 CL E G H	23418	65				ORPHA	1	347	544	2343	604210
HP:0001252	HP:0001252	Muscular hypotonia	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0001252	HP:0001252	Muscular hypotonia	0	CRX CL E G H	1406	65				ORPHA	1	107	298	2383	602225
HP:0001252	HP:0001252	Muscular hypotonia	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	1	27	257	26193	611654
HP:0001252	HP:0001252	Muscular hypotonia	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	37	161	2516	604275
HP:0001252	HP:0001252	Muscular hypotonia	0	CYP27B1 CL E G H	1594	264700	Vitamin D-dependent rickets, type 1	264700	C0268689	OMIM	1	82	93	2606	609506
HP:0001252	HP:0001252	Muscular hypotonia	0	CYP2R1 CL E G H	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	600081	C1838657	OMIM	1	6	46	20580	608713
HP:0001252	HP:0001252	Muscular hypotonia	0	D2HGDH CL E G H	728294	600721	D-2-hydroxyglutaric aciduria 1	600721	C3152055	OMIM	1	33	299	28358	609186
HP:0001252	HP:0001252	Muscular hypotonia	0	DAG1 CL E G H	1605	899				ORPHA	1	11	301	2666	128239
HP:0001252	HP:0001252	Muscular hypotonia	0	DBT CL E G H	1629	248600	Maple syrup urine disease	248600	C0024776	OMIM	1	78	340	2698	248610
HP:0001252	HP:0001252	Muscular hypotonia	0	DCX CL E G H	1641	2148				ORPHA	1	142	330	2714	300121
HP:0001252	HP:0001252	Muscular hypotonia	0	DEAF1 CL E G H	10522	819				ORPHA	1	17	129	14677	602635
HP:0001252	HP:0001252	Muscular hypotonia	0	DGUOK CL E G H	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	251880	C3151513	OMIM	1	64	122	2858	601465
HP:0001252	HP:0001252	Muscular hypotonia	0	DHCR7 CL E G H	1717	818				ORPHA	1	218	376	2860	602858
HP:0001252	HP:0001252	Muscular hypotonia	0	DIS3L2 CL E G H	129563	2849				ORPHA	1	14	881	28648	614184
HP:0001252	HP:0001252	Muscular hypotonia	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	3970	3760	2928	300377
HP:0001252	HP:0001252	Muscular hypotonia	0	DMPK CL E G H	1760	273				ORPHA	1	8	233	2933	605377
HP:0001252	HP:0001252	Muscular hypotonia	0	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	8	233	2933	605377
HP:0001252	HP:0001252	Muscular hypotonia	0	DPAGT1 CL E G H	1798	86309				ORPHA	1	42	157	2995	191350
HP:0001252	HP:0001252	Muscular hypotonia	0	DPAGT1 CL E G H	1798	608093	Congenital disorder of glycosylation type 1J	608093	C2931004	OMIM	1	42	157	2995	191350
HP:0001252	HP:0001252	Muscular hypotonia	0	DPF2 CL E G H	5977	1465				ORPHA	1	9	14	9964	601671
HP:0001252	HP:0001252	Muscular hypotonia	0	DPM1 CL E G H	8813	79322				ORPHA	1	9	120	3005	603503
HP:0001252	HP:0001252	Muscular hypotonia	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	9	120	3005	603503
HP:0001252	HP:0001252	Muscular hypotonia	0	DPYD CL E G H	1806	274270	Dihydropyrimidine dehydrogenase deficiency	274270	C2720286	OMIM	1	124	285	3012	612779
HP:0001252	HP:0001252	Muscular hypotonia	0	DUOX2 CL E G H	50506	95716				ORPHA	1	185	306	13273	606759
HP:0001252	HP:0001252	Muscular hypotonia	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	18	54	32698	612772
HP:0001252	HP:0001252	Muscular hypotonia	0	DYNC1H1 CL E G H	1778	614563	Mental retardation, autosomal dominant 13	614563	C3281202	OMIM	1	77	1453	2961	600112
HP:0001252	HP:0001252	Muscular hypotonia	0	ECHS1 CL E G H	1892	255241				ORPHA	1	33	184	3151	602292
HP:0001252	HP:0001252	Muscular hypotonia	0	EDNRB CL E G H	1910	277580	Waardenburg syndrome type 4A	277580	C1848519	OMIM	1	70	191	3180	131244
HP:0001252	HP:0001252	Muscular hypotonia	0	EFNB1 CL E G H	1947	1520				ORPHA	1	118	181	3226	300035
HP:0001252	HP:0001252	Muscular hypotonia	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	118	181	3226	300035
HP:0001252	HP:0001252	Muscular hypotonia	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	24	197	3239	129010
HP:0001252	HP:0001252	Muscular hypotonia	0	EHMT1 CL E G H	79813	96147				ORPHA	1	94	746	24650	607001
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	81	125	3255	604032
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B1 CL E G H	1967	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	9	98	3257	606686
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B2 CL E G H	8892	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	29	80	3258	606454
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B3 CL E G H	8891	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	22	83	3259	606273
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B4 CL E G H	8890	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	33	88	3260	606687
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B5 CL E G H	8893	603896	Leukoencephalopathy with vanishing white matter	603896	C1858991	OMIM	1	101	162	3261	603945
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2S3 CL E G H	1968	85282				ORPHA	1	5	178	3267	300161
HP:0001252	HP:0001252	Muscular hypotonia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	523	3327	130160
HP:0001252	HP:0001252	Muscular hypotonia	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	127	523	3327	130160
HP:0001252	HP:0001252	Muscular hypotonia	0	ELP1 CL E G H	8518	1764				ORPHA	1	6	660	5959	603722
HP:0001252	HP:0001252	Muscular hypotonia	0	ELP1 CL E G H	8518	223900	Familial dysautonomia	223900	C0013364	OMIM	1	6	660	5959	603722
HP:0001252	HP:0001252	Muscular hypotonia	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0001252	HP:0001252	Muscular hypotonia	0	EPCAM CL E G H	4072	144				ORPHA	1	81	293	11529	185535
HP:0001252	HP:0001252	Muscular hypotonia	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	68	495	29331	615068
HP:0001252	HP:0001252	Muscular hypotonia	0	EPG5 CL E G H	57724	242840	Vici syndrome	242840	C1855772	OMIM	1	68	495	29331	615068
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC1 CL E G H	2067	1466				ORPHA	1	8	53	3433	126380
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC2 CL E G H	2068	1466				ORPHA	1	108	227	3434	126340
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC5 CL E G H	2073	1466				ORPHA	1	59	263	3437	133530
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC6 CL E G H	2074	1466				ORPHA	1	140	499	3438	609413
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	140	499	3438	609413
HP:0001252	HP:0001252	Muscular hypotonia	0	ERF CL E G H	2077	3267				ORPHA	1	19	75	3444	611888
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFA CL E G H	2108	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	30	124	3481	608053
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFB CL E G H	2109	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	15	106	3482	130410
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFDH CL E G H	2110	231680	Glutaric aciduria, type 2	231680	C0268596	OMIM	1	191	256	3483	231675
HP:0001252	HP:0001252	Muscular hypotonia	0	ETHE1 CL E G H	23474	602473	Ethylmalonic encephalopathy	602473	C1865349	OMIM	1	37	127	23287	608451
HP:0001252	HP:0001252	Muscular hypotonia	0	EZH2 CL E G H	2146	277590	Weaver syndrome	277590	C0265210	OMIM	1	42	235	3527	601573
HP:0001252	HP:0001252	Muscular hypotonia	0	FAN1 CL E G H	22909	144				ORPHA	1	21	273	29170	613534
HP:0001252	HP:0001252	Muscular 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	3	235	29160	612322
HP:0001252	HP:0001252	Muscular hypotonia	0	FBN1 CL E G H	2200	284979				ORPHA	1	2721	4284	3603	134797
HP:0001252	HP:0001252	Muscular hypotonia	0	FBN1 CL E G H	2200	2462				ORPHA	1	2721	4284	3603	134797
HP:0001252	HP:0001252	Muscular hypotonia	0	FBP1 CL E G H	2203	229700	Fructose-biphosphatase deficiency	229700	C0016756	OMIM	1	48	148	3606	611570
HP:0001252	HP:0001252	Muscular hypotonia	0	FDX2 CL E G H	112812	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1	2	30	30546	614585
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3 CL E G H	2261	1860				ORPHA	1	77	431	3690	134934
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3 CL E G H	2261	93274				ORPHA	1	77	431	3690	134934
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3 CL E G H	2261	15	Antisocial personality disorder			ORPHA	1	77	431	3690	134934
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	77	431	3690	134934
HP:0001252	HP:0001252	Muscular hypotonia	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	890	3700	136850
HP:0001252	HP:0001252	Muscular hypotonia	0	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	6	86	18625	614505
HP:0001252	HP:0001252	Muscular hypotonia	0	FKRP CL E G H	79147	588				ORPHA	1	141	402	17997	606596
HP:0001252	HP:0001252	Muscular hypotonia	0	FKRP CL E G H	79147	899				ORPHA	1	141	402	17997	606596
HP:0001252	HP:0001252	Muscular hypotonia	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	402	17997	606596
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	588				ORPHA	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	899				ORPHA	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	59	450	3622	607440
HP:0001252	HP:0001252	Muscular hypotonia	0	FLII CL E G H	2314	819				ORPHA	1	2	153	3750	600362
HP:0001252	HP:0001252	Muscular hypotonia	0	FMR1 CL E G H	2332	261483				ORPHA	1	81	281	3775	309550
HP:0001252	HP:0001252	Muscular hypotonia	0	FMR1 CL E G H	2332	908				ORPHA	1	81	281	3775	309550
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXE1 CL E G H	2304	95713				ORPHA	1	31	48	3806	602617
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXG1 CL E G H	2290	261144				ORPHA	1	169	357	3811	164874
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	8	183	26927	613622
HP:0001252	HP:0001252	Muscular hypotonia	0	FUCA1 CL E G H	2517	349	Neuroaxonal dystrophy renal tubular acidosis			ORPHA	1	34	109	4006	612280
HP:0001252	HP:0001252	Muscular hypotonia	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	582	1185	4065	606800
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRA1 CL E G H	2554	33069				ORPHA	1	48	336	4075	137160
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRD CL E G H	2563	1606				ORPHA	1	7	278	4084	137163
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRG2 CL E G H	2566	33069				ORPHA	1	47	328	4087	137164
HP:0001252	HP:0001252	Muscular hypotonia	0	GALC CL E G H	2581	245200	Galactosylceramide beta-galactosidase deficiency	245200	C0023521	OMIM	1	251	462	4115	606890
HP:0001252	HP:0001252	Muscular hypotonia	0	GALE CL E G H	2582	230350	UDPglucose-4-epimerase deficiency	230350	C0751161	OMIM	1	27	112	4116	606953
HP:0001252	HP:0001252	Muscular hypotonia	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	15	235	4170	305371
HP:0001252	HP:0001252	Muscular hypotonia	0	GBA CL E G H	2629	85212				ORPHA	1	494	206	4177	606463
HP:0001252	HP:0001252	Muscular hypotonia	0	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	74	231	4180	607839
HP:0001252	HP:0001252	Muscular hypotonia	0	GCDH CL E G H	2639	25				ORPHA	1	244	337	4189	608801
HP:0001252	HP:0001252	Muscular hypotonia	0	GCDH CL E G H	2639	231670	Glutaric aciduria, type 1	231670	C0268595	OMIM	1	244	337	4189	608801
HP:0001252	HP:0001252	Muscular hypotonia	0	GCSH CL E G H	2653	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	2	105	4208	238330
HP:0001252	HP:0001252	Muscular hypotonia	0	GDF6 CL E G H	392255	65				ORPHA	1	21	165	4221	601147
HP:0001252	HP:0001252	Muscular hypotonia	0	GLDC CL E G H	2731	605899	Non-ketotic hyperglycinemia	605899	C0751748	OMIM	1	426	785	4313	238300
HP:0001252	HP:0001252	Muscular hypotonia	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	12	126	4367	613109
HP:0001252	HP:0001252	Muscular hypotonia	0	GMPPB CL E G H	29925	588				ORPHA	1	49	151	22932	615320
HP:0001252	HP:0001252	Muscular hypotonia	0	GMPPB CL E G H	29925	363623				ORPHA	1	49	151	22932	615320
HP:0001252	HP:0001252	Muscular hypotonia	0	GNPAT CL E G H	8443	222765	Rhizomelic chondrodysplasia punctata type 2	222765	C1857242	OMIM	1	16	144	4416	602744
HP:0001252	HP:0001252	Muscular hypotonia	0	GORAB CL E G H	92344	2078				ORPHA	1	16	108	25676	607983
HP:0001252	HP:0001252	Muscular hypotonia	0	GP1BB CL E G H	2812	567				ORPHA	1	53	404	4440	138720
HP:0001252	HP:0001252	Muscular hypotonia	0	GPC3 CL E G H	2719	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	98	526	4451	300037
HP:0001252	HP:0001252	Muscular hypotonia	0	GPC4 CL E G H	2239	312870	Simpson-Golabi-Behmel syndrome	312870	C0796154	OMIM	1	5	196	4452	300168
HP:0001252	HP:0001252	Muscular hypotonia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	157	4659	601679
HP:0001252	HP:0001252	Muscular hypotonia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	206	4661	604318
HP:0001252	HP:0001252	Muscular hypotonia	0	GUCY2D CL E G H	3000	65				ORPHA	1	243	388	4689	600179
HP:0001252	HP:0001252	Muscular hypotonia	0	GUSB CL E G H	2990	584	Al Gazali Donnai Mueller syndrome			ORPHA	1	66	157	4696	611499
HP:0001252	HP:0001252	Muscular hypotonia	0	HACD1 CL E G H	9200	2020				ORPHA	1	1	33	9639	610467
HP:0001252	HP:0001252	Muscular hypotonia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	1	13	63	21033	610876
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHA CL E G H	3030	746	Apert like polydactyly syndrome			ORPHA	1	71	302	4801	600890
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHA CL E G H	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	609016	CN074230	OMIM	1	71	302	4801	600890
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHA CL E G H	3030	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	71	302	4801	600890
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHB CL E G H	3032	746	Apert like polydactyly syndrome			ORPHA	1	67	148	4803	143450
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHB CL E G H	3032	609015	Mitochondrial trifunctional protein deficiency	609015	C0342786	OMIM	1	67	148	4803	143450
HP:0001252	HP:0001252	Muscular hypotonia	0	HBA1 CL E G H	3039	98791				ORPHA	1	217	346	4823	141800
HP:0001252	HP:0001252	Muscular hypotonia	0	HBA2 CL E G H	3040	98791				ORPHA	1	296	274	4824	141850
HP:0001252	HP:0001252	Muscular hypotonia	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	16	223	14063	605314
HP:0001252	HP:0001252	Muscular hypotonia	0	HESX1 CL E G H	8820	226307				ORPHA	1	27	46	4877	601802
HP:0001252	HP:0001252	Muscular hypotonia	0	HIBCH CL E G H	26275	88639				ORPHA	1	19	93	4908	610690
HP:0001252	HP:0001252	Muscular hypotonia	0	HIRA CL E G H	7290	567				ORPHA	1	5	399	4916	600237
HP:0001252	HP:0001252	Muscular hypotonia	0	HLCS CL E G H	3141	79242				ORPHA	1	49	373	4976	609018
HP:0001252	HP:0001252	Muscular hypotonia	0	HLCS CL E G H	3141	253270	Holocarboxylase synthetase deficiency	253270	C0268581	OMIM	1	49	373	4976	609018
HP:0001252	HP:0001252	Muscular hypotonia	0	HNRNPU CL E G H	3192	238769				ORPHA	1	68	321	5048	602869
HP:0001252	HP:0001252	Muscular hypotonia	0	HPD CL E G H	3242	2118				ORPHA	1	9	100	5147	609695
HP:0001252	HP:0001252	Muscular hypotonia	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	428	272	5157	308000
HP:0001252	HP:0001252	Muscular hypotonia	0	HRAS CL E G H	3265	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	34	295	5173	190020
HP:0001252	HP:0001252	Muscular hypotonia	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	179	4800	300256
HP:0001252	HP:0001252	Muscular hypotonia	0	HSPD1 CL E G H	3329	612233	Leukodystrophy, hypomyelinating, 4	612233	C2677109	OMIM	1	6	128	5261	118190
HP:0001252	HP:0001252	Muscular hypotonia	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	1	2	122	26558	610693
HP:0001252	HP:0001252	Muscular hypotonia	0	IDH2 CL E G H	3418	613657	D-2-hydroxyglutaric aciduria 2	613657	C3150909	OMIM	1	7	102	5383	147650
HP:0001252	HP:0001252	Muscular hypotonia	0	IDUA CL E G H	3425	93473				ORPHA	1	291	622	5391	252800
HP:0001252	HP:0001252	Muscular hypotonia	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0001252	HP:0001252	Muscular hypotonia	0	IFT140 CL E G H	9742	65				ORPHA	1	72	530	29077	614620
HP:0001252	HP:0001252	Muscular hypotonia	0	IMPDH1 CL E G H	3614	65				ORPHA	1	24	198	6052	146690
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E CL E G H	56623	220493				ORPHA	1	54	325	21474	613037
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	1	54	325	21474	613037
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	325	21474	613037
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	325	21474	613037
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5K CL E G H	51763	559				ORPHA	1	10	136	33882	607875
HP:0001252	HP:0001252	Muscular hypotonia	0	INPPL1 CL E G H	3636	2746	Hoyeraal syndrome			ORPHA	1	32	63	6080	600829
HP:0001252	HP:0001252	Muscular hypotonia	0	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	32	63	6080	600829
HP:0001252	HP:0001252	Muscular hypotonia	0	IQCB1 CL E G H	9657	65				ORPHA	1	43	155	28949	609237
HP:0001252	HP:0001252	Muscular hypotonia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	57	539	29059	300522
HP:0001252	HP:0001252	Muscular hypotonia	0	ISPD CL E G H	729920	899				ORPHA	1		475	37276	614631
HP:0001252	HP:0001252	Muscular hypotonia	0	ITGA3 CL E G H	3675	614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	614748	C3553636	OMIM	1	11	60	6139	605025
HP:0001252	HP:0001252	Muscular hypotonia	0	ITGA7 CL E G H	3679	2020				ORPHA	1	10	370	6143	600536
HP:0001252	HP:0001252	Muscular hypotonia	0	ITGB6 CL E G H	3694	2850				ORPHA	1	7	60	6161	147558
HP:0001252	HP:0001252	Muscular hypotonia	0	ITPR1 CL E G H	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	95	501	6180	147265
HP:0001252	HP:0001252	Muscular hypotonia	0	IYD CL E G H	389434	95716				ORPHA	1	5	46	21071	612025
HP:0001252	HP:0001252	Muscular hypotonia	0	JMJD1C CL E G H	221037	567				ORPHA	1	29	509	12313	604503
HP:0001252	HP:0001252	Muscular hypotonia	0	KANK1 CL E G H	23189	612900	Cerebral palsy, spastic quadriplegic, 2	612900	C2752061	OMIM	1	11	392	19309	607704
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6B CL E G H	23522	648				ORPHA	1	76	228	17582	605880
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6B CL E G H	23522	3047				ORPHA	1	76	228	17582	605880
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	76	228	17582	605880
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNAB2 CL E G H	8514	1606				ORPHA	1	5	85	6229	601142
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNC3 CL E G H	3748	605259	Spinocerebellar ataxia 13	605259	C1854488	OMIM	1	12	94	6235	176264
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNE5 CL E G H	23630	86818				ORPHA	1	4	173	6241	300328
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNH1 CL E G H	3756	611816	Temple-Baraitser syndrome	611816	C2678486	OMIM	1	13	91	6250	603305
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	91	6250	603305
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNJ10 CL E G H	3766	612780	SeSAME syndrome	612780	C2748572	OMIM	1	33	233	6256	602208
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNJ13 CL E G H	3769	65				ORPHA	1	10	109	6259	603208
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNK9 CL E G H	51305	612292	Birk Barel mental retardation dysmorphism syndrome	612292	C2676770	OMIM	1	2	65	6283	605874
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ2 CL E G H	3785	306				ORPHA	1	314	1056	6296	602235
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	314	1056	6296	602235
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ3 CL E G H	3786	306				ORPHA	1	25	692	6297	602232
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A CL E G H	7403	2322				ORPHA	1	81	311	12637	300128
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	311	12637	300128
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A CL E G H	7403	300867	Kabuki syndrome 2	300867	C3275495	OMIM	1	81	311	12637	300128
HP:0001252	HP:0001252	Muscular hypotonia	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	1	2		29068	616650
HP:0001252	HP:0001252	Muscular hypotonia	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	1	31	155	19960	610178
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF11 CL E G H	3832	2526				ORPHA	1	70	172	6388	148760
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF1A CL E G H	547	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	43	1059	888	601255
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF1BP CL E G H	26128	66629				ORPHA	1	10		23419	609367
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	4	272	6391	603213
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2A CL E G H	4297	319182				ORPHA	1	127	379	7132	159555
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2D CL E G H	8085	2322				ORPHA	1	712	1350	7133	602113
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1350	7133	602113
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS CL E G H	3845	3339				ORPHA	1	45	274	6407	190070
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS CL E G H	3845	648				ORPHA	1	45	274	6407	190070
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS CL E G H	3845	144				ORPHA	1	45	274	6407	190070
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	274	6407	190070
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS CL E G H	3845	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	45	274	6407	190070
HP:0001252	HP:0001252	Muscular hypotonia	0	L2HGDH CL E G H	79944	79314				ORPHA	1	81	87	20499	609584
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	380	1499	6482	156225
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMB2 CL E G H	3913	98915				ORPHA	1	127	368	6487	150325
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMB2 CL E G H	3913	609049	Pierson syndrome	609049	C1836876	OMIM	1	127	368	6487	150325
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1 CL E G H	9215	899				ORPHA	1	28	406	6511	603590
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1 CL E G H	9215	588				ORPHA	1	28	406	6511	603590
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	28	406	6511	603590
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	406	6511	603590
HP:0001252	HP:0001252	Muscular hypotonia	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0001252	HP:0001252	Muscular hypotonia	0	LCA5 CL E G H	167691	65				ORPHA	1	49	246	31923	611408
HP:0001252	HP:0001252	Muscular hypotonia	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	175	6556	604407
HP:0001252	HP:0001252	Muscular hypotonia	0	LGI4 CL E G H	163175	2680				ORPHA	1	9	48	18712	608303
HP:0001252	HP:0001252	Muscular hypotonia	0	LHX3 CL E G H	8022	226307				ORPHA	1	18	175	6595	600577
HP:0001252	HP:0001252	Muscular hypotonia	0	LHX4 CL E G H	89884	226307				ORPHA	1	23	116	21734	602146
HP:0001252	HP:0001252	Muscular hypotonia	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	32	346	6597	151443
HP:0001252	HP:0001252	Muscular hypotonia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	193	6613	601329
HP:0001252	HP:0001252	Muscular hypotonia	0	LIPT1 CL E G H	51601	255241				ORPHA	1	9	54	29569	610284
HP:0001252	HP:0001252	Muscular hypotonia	0	LMBRD1 CL E G H	55788	79284				ORPHA	1	9	104	23038	612625
HP:0001252	HP:0001252	Muscular hypotonia	0	LMBRD1 CL E G H	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	277380	C1848578	OMIM	1	9	104	23038	612625
HP:0001252	HP:0001252	Muscular hypotonia	0	LMNA CL E G H	4000	157973				ORPHA	1	574	1152	6636	150330
HP:0001252	HP:0001252	Muscular hypotonia	0	LONP1 CL E G H	9361	1458				ORPHA	1	19	131	9479	605490
HP:0001252	HP:0001252	Muscular hypotonia	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	1	19	131	9479	605490
HP:0001252	HP:0001252	Muscular hypotonia	0	LRAT CL E G H	9227	65				ORPHA	1	24	158	6685	604863
HP:0001252	HP:0001252	Muscular hypotonia	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	221	411	6697	603506
HP:0001252	HP:0001252	Muscular hypotonia	0	LRPPRC CL E G H	10128	220111	Leigh syndrome, French Canadian type	220111	C1857355	OMIM	1	21	467	15714	607544
HP:0001252	HP:0001252	Muscular hypotonia	0	LTC4S CL E G H	4056	614037	Leukotriene c4 synthase deficiency	614037	C3279662	OMIM	1	6	46	6719	246530
HP:0001252	HP:0001252	Muscular hypotonia	0	LZTR1 CL E G H	8216	648				ORPHA	1	86	699	6742	600574
HP:0001252	HP:0001252	Muscular hypotonia	0	MAN2B1 CL E G H	4125	248500	Deficiency of alpha-mannosidase	248500	C0024748	OMIM	1	151	393	6826	609458
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K1 CL E G H	5604	615279	Cardiofaciocutaneous syndrome 3	615279	C3809006	OMIM	1	23	213	6840	176872
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	213	6840	176872
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K2 CL E G H	5605	615280	Cardiofaciocutaneous syndrome 4	615280	C3809007	OMIM	1	35	338	6842	601263
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	338	6842	601263
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP3K20 CL E G H	51776	2020				ORPHA	1	7	36	17797	609479
HP:0001252	HP:0001252	Muscular hypotonia	0	MBD5 CL E G H	55777	228402				ORPHA	1	91	664	20444	611472
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC1 CL E G H	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	210200	CN028786	OMIM	1	108	273	6936	609010
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC1 CL E G H	56922	6	Intellectual disability (mild)		CN240508	ORPHA	1	108	273	6936	609010
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC2 CL E G H	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	210210	C1859499	OMIM	1	117	237	6937	609014
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC2 CL E G H	64087	6	Intellectual disability (mild)		CN240508	ORPHA	1	117	237	6937	609014
HP:0001252	HP:0001252	Muscular hypotonia	0	MCOLN1 CL E G H	57192	578	Akesson syndrome			ORPHA	1	36	228	13356	605248
HP:0001252	HP:0001252	Muscular hypotonia	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	36	228	13356	605248
HP:0001252	HP:0001252	Muscular hypotonia	0	MED12 CL E G H	9968	776				ORPHA	1	34	650	11957	300188
HP:0001252	HP:0001252	Muscular hypotonia	0	MEF2C CL E G H	4208	228384				ORPHA	1	89	245	6996	600662
HP:0001252	HP:0001252	Muscular hypotonia	0	MKS1 CL E G H	54903	220493				ORPHA	1	52	334	7121	609883
HP:0001252	HP:0001252	Muscular hypotonia	0	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	1	52	334	7121	609883
HP:0001252	HP:0001252	Muscular hypotonia	0	MLH1 CL E G H	4292	144				ORPHA	1	1203	3185	7127	120436
HP:0001252	HP:0001252	Muscular hypotonia	0	MLH3 CL E G H	27030	144				ORPHA	1	32	487	7128	604395
HP:0001252	HP:0001252	Muscular hypotonia	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	6	197	12744	605678
HP:0001252	HP:0001252	Muscular hypotonia	0	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	39	237	7150	606761
HP:0001252	HP:0001252	Muscular hypotonia	0	MMAA CL E G H	166785	251100	Methylmalonic aciduria cblA type	251100	C1855109	OMIM	1	76	263	18871	607481
HP:0001252	HP:0001252	Muscular hypotonia	0	MMAB CL E G H	326625	251110	Methylmalonic aciduria cblB type	251110	C1855102	OMIM	1	42	256	19331	607568
HP:0001252	HP:0001252	Muscular hypotonia	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	95	274	24525	609831
HP:0001252	HP:0001252	Muscular hypotonia	0	MMADHC CL E G H	27249	277410	Methylmalonic acidemia with homocystinuria cblD	277410	C1848552	OMIM	1	14	114	25221	611935
HP:0001252	HP:0001252	Muscular hypotonia	0	MMUT CL E G H	4594	289916				ORPHA	1		440	7526	609058
HP:0001252	HP:0001252	Muscular hypotonia	0	MMUT CL E G H	4594	79312				ORPHA	1		440	7526	609058
HP:0001252	HP:0001252	Muscular hypotonia	0	MMUT CL E G H	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	251000	C1855114	OMIM	1		440	7526	609058
HP:0001252	HP:0001252	Muscular hypotonia	0	MOGS CL E G H	7841	606056	Congenital disorder of glycosylation type 2B	606056	C1853736	OMIM	1	8	173	24862	601336
HP:0001252	HP:0001252	Muscular hypotonia	0	MPDU1 CL E G H	9526	79323				ORPHA	1	7	85	7207	604041
HP:0001252	HP:0001252	Muscular hypotonia	0	MPI CL E G H	4351	602579	Congenital disorder of glycosylation type 1B	602579	C1865145	OMIM	1	21	174	7216	154550
HP:0001252	HP:0001252	Muscular hypotonia	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	246	444	7225	159440
HP:0001252	HP:0001252	Muscular hypotonia	0	MRPS22 CL E G H	56945	611719	Combined oxidative phosphorylation deficiency 5	611719	C2673642	OMIM	1	9	84	14508	605810
HP:0001252	HP:0001252	Muscular hypotonia	0	MSH2 CL E G H	4436	144				ORPHA	1	1264	4096	7325	609309
HP:0001252	HP:0001252	Muscular hypotonia	0	MSH6 CL E G H	2956	144				ORPHA	1	602	5096	7329	600678
HP:0001252	HP:0001252	Muscular hypotonia	0	MT-ATP8 CL E G H	4509	480				ORPHA	1			7415	516070
HP:0001252	HP:0001252	Muscular hypotonia	0	MT-TL1 CL E G H	4567	480				ORPHA	1			7490	590050
HP:0001252	HP:0001252	Muscular 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:0001252	HP:0001252	Muscular 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:0001252	HP:0001252	Muscular hypotonia	0	MT-TW CL E G H	4578	251900	Mitochondrial myopathy	251900	C0162670	OMIM	1			7501	590095
HP:0001252	HP:0001252	Muscular hypotonia	0	MTFMT CL E G H	123263	255241				ORPHA	1	17	76	29666	611766
HP:0001252	HP:0001252	Muscular hypotonia	0	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	327	499	7448	300415
HP:0001252	HP:0001252	Muscular hypotonia	0	MTRR CL E G H	4552	2169	Epilepsy with myoclono-astatic crisis			ORPHA	1	36	328	7473	602568
HP:0001252	HP:0001252	Muscular 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	36	328	7473	602568
HP:0001252	HP:0001252	Muscular hypotonia	0	MTTP CL E G H	4547	14	Bilateral squint		CN228276	ORPHA	1	76	209	7467	157147
HP:0001252	HP:0001252	Muscular hypotonia	0	MVK CL E G H	4598	29				ORPHA	1	183	277	7530	251170
HP:0001252	HP:0001252	Muscular hypotonia	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	183	277	7530	251170
HP:0001252	HP:0001252	Muscular hypotonia	0	MYL2 CL E G H	4633	2020				ORPHA	1	67	282	7583	160781
HP:0001252	HP:0001252	Muscular hypotonia	0	MYMK CL E G H	389827	1358				ORPHA	1	7	57	33778	615345
HP:0001252	HP:0001252	Muscular hypotonia	0	MYO5A CL E G H	4644	33445				ORPHA	1	12	116	7602	160777
HP:0001252	HP:0001252	Muscular hypotonia	0	MYO5A CL E G H	4644	214450	Griscelli syndrome type 1	214450	C1859194	OMIM	1	12	116	7602	160777
HP:0001252	HP:0001252	Muscular hypotonia	0	NAGA CL E G H	4668	79279				ORPHA	1	11	130	7631	104170
HP:0001252	HP:0001252	Muscular hypotonia	0	NAGA CL E G H	4668	609241	Schindler disease, type 1	609241	C1836544	OMIM	1	11	130	7631	104170
HP:0001252	HP:0001252	Muscular hypotonia	0	NANS CL E G H	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	610442	C1864872	OMIM	1	12	61	19237	605202
HP:0001252	HP:0001252	Muscular hypotonia	0	NBAS CL E G H	51594	614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	614800	C3541319	OMIM	1	44	156	15625	608025
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	6	302	7684	603835
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	4	31	23987	614530
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	3	16	17194	609435
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	4	48	7685	602137
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	2	55	7687	603833
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	3	116	7693	603834
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	8	87	28086	609653
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	12	121	15899	612360
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	10	113	28625	612392
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	28	192	7707	157655
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	24	116	7708	602985
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	3	58	7710	603846
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	17	69	7711	602694
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	69	7711	602694
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	8	92	7714	601825
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	13	66	7715	602141
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	36	144	7716	161015
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	8	135	7717	600532
HP:0001252	HP:0001252	Muscular hypotonia	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	4	167	12768	606026
HP:0001252	HP:0001252	Muscular hypotonia	0	NEU1 CL E G H	4758	812				ORPHA	1	64	102	7758	608272
HP:0001252	HP:0001252	Muscular hypotonia	0	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	64	102	7758	608272
HP:0001252	HP:0001252	Muscular hypotonia	0	NFIX CL E G H	4784	602535	Marshall-Smith syndrome	602535	C0265211	OMIM	1	104	154	7788	164005
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-1 CL E G H	7080	95713				ORPHA	1	143	136	11825	600635
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-1 CL E G H	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978	C1970269	OMIM	1	143	136	11825	600635
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-5 CL E G H	1482	95712				ORPHA	1	112	215	2488	600584
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-5 CL E G H	1482	95713				ORPHA	1	112	215	2488	600584
HP:0001252	HP:0001252	Muscular hypotonia	0	NMNAT1 CL E G H	64802	65				ORPHA	1	76	112	17877	608700
HP:0001252	HP:0001252	Muscular hypotonia	0	NPC1 CL E G H	4864	257220	Niemann-Pick disease type C1	257220	C3179455	OMIM	1	478	716	7897	607623
HP:0001252	HP:0001252	Muscular hypotonia	0	NPC2 CL E G H	10577	607625	Niemann-Pick disease type C2	607625	C1843366	OMIM	1	27	78	14537	601015
HP:0001252	HP:0001252	Muscular hypotonia	0	NPHP1 CL E G H	4867	220497				ORPHA	1	79	403	7905	607100
HP:0001252	HP:0001252	Muscular hypotonia	0	NRAS CL E G H	4893	648				ORPHA	1	14	181	7989	164790
HP:0001252	HP:0001252	Muscular hypotonia	0	NRAS CL E G H	4893	2612	Heart defect, tongue hamartoma and polysyndactyly			ORPHA	1	14	181	7989	164790
HP:0001252	HP:0001252	Muscular hypotonia	0	NSD1 CL E G H	64324	821				ORPHA	1	525	896	14234	606681
HP:0001252	HP:0001252	Muscular hypotonia	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	14	220	12766	602952
HP:0001252	HP:0001252	Muscular hypotonia	0	OFD1 CL E G H	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	300209	C1846175	OMIM	1	162	510	2567	300170
HP:0001252	HP:0001252	Muscular hypotonia	0	OGDH CL E G H	4967	203740	Alpha-ketoglutarate dehydrogenase deficiency	203740	C2752074	OMIM	1	1	67	8124	613022
HP:0001252	HP:0001252	Muscular hypotonia	0	OPHN1 CL E G H	4983	137831				ORPHA	1	43	245	8148	300127
HP:0001252	HP:0001252	Muscular hypotonia	0	OPHN1 CL E G H	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	300486	C1845366	OMIM	1	43	245	8148	300127
HP:0001252	HP:0001252	Muscular hypotonia	0	ORAI1 CL E G H	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	612782	C2748568	OMIM	1	17	101	25896	610277
HP:0001252	HP:0001252	Muscular hypotonia	0	P4HB CL E G H	5034	2050	Ectodermal dysplasia Margarita type			ORPHA	1	11	47	8548	176790
HP:0001252	HP:0001252	Muscular hypotonia	0	PAFAH1B1 CL E G H	5048	217385				ORPHA	1	170	255	8574	601545
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX6 CL E G H	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia			ORPHA	1	571	496	8620	607108
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8 CL E G H	7849	95713				ORPHA	1	51	143	8622	167415
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8 CL E G H	7849	95720				ORPHA	1	51	143	8622	167415
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8 CL E G H	7849	95712				ORPHA	1	51	143	8622	167415
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8 CL E G H	7849	218700	Thyroid dysgenesis	218700	C1563716	OMIM	1	51	143	8622	167415
HP:0001252	HP:0001252	Muscular hypotonia	0	PC CL E G H	5091	266150	Pyruvate carboxylase deficiency	266150	C0034341	OMIM	1	42	307	8636	608786
HP:0001252	HP:0001252	Muscular hypotonia	0	PCBD1 CL E G H	5092	264070	Hyperphenylalaninemia, BH4-deficient, D	264070	C1849700	OMIM	1	11	44	8646	126090
HP:0001252	HP:0001252	Muscular hypotonia	0	PCDH19 CL E G H	57526	33069				ORPHA	1	205	748	14270	300460
HP:0001252	HP:0001252	Muscular hypotonia	0	PCYT1A CL E G H	5130	65				ORPHA	1	20	143	8754	123695
HP:0001252	HP:0001252	Muscular hypotonia	0	PDHA1 CL E G H	5160	255241				ORPHA	1	193	408	8806	300502
HP:0001252	HP:0001252	Muscular hypotonia	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	408	8806	300502
HP:0001252	HP:0001252	Muscular hypotonia	0	PDP1 CL E G H	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	608782	C1837429	OMIM	1	3	72	9279	605993
HP:0001252	HP:0001252	Muscular hypotonia	0	PET100 CL E G H	100131801	255241				ORPHA	1	2	28	40038	614770
HP:0001252	HP:0001252	Muscular 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	2	28	40038	614770
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1 CL E G H	5189	772				ORPHA	1	140	489	8850	602136
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	140	489	8850	602136
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1 CL E G H	5189	214100	Zellweger syndrome	214100	C0043459	OMIM	1	140	489	8850	602136
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX10 CL E G H	5192	772				ORPHA	1	32	347	8851	602859
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	32	347	8851	602859
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX11B CL E G H	8799	772				ORPHA	1	8	247	8853	603867
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	8	247	8853	603867
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12 CL E G H	5193	772				ORPHA	1	37	181	8854	601758
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	37	181	8854	601758
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	37	181	8854	601758
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX13 CL E G H	5194	772				ORPHA	1	10	196	8855	601789
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	10	196	8855	601789
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX14 CL E G H	5195	772				ORPHA	1	5	176	8856	601791
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	5	176	8856	601791
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX16 CL E G H	9409	772				ORPHA	1	15	149	8857	603360
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	15	149	8857	603360
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX19 CL E G H	5824	772				ORPHA	1	4	133	9713	600279
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	4	133	9713	600279
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX2 CL E G H	5828	772				ORPHA	1	18	208	9717	170993
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	18	208	9717	170993
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX26 CL E G H	55670	772				ORPHA	1	27	277	22965	608666
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	27	277	22965	608666
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX3 CL E G H	8504	772				ORPHA	1	10	116	8858	603164
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	10	116	8858	603164
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5 CL E G H	5830	772				ORPHA	1	14	280	9719	600414
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	14	280	9719	600414
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	14	280	9719	600414
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX6 CL E G H	5190	772				ORPHA	1	109	375	8859	601498
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	109	375	8859	601498
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX7 CL E G H	5191	773				ORPHA	1	53	187	8860	601757
HP:0001252	HP:0001252	Muscular hypotonia	0	PHF6 CL E G H	84295	127				ORPHA	1	29	235	18145	300414
HP:0001252	HP:0001252	Muscular hypotonia	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	235	18145	300414
HP:0001252	HP:0001252	Muscular hypotonia	0	PHKG2 CL E G H	5261	613027	Glycogen storage disease IXc	613027	C2751643	OMIM	1	33	120	8931	172471
HP:0001252	HP:0001252	Muscular hypotonia	0	PHOX2B CL E G H	8929	99803	Haddad syndrome		C1859587	ORPHA	1	88	387	9143	603851
HP:0001252	HP:0001252	Muscular hypotonia	0	PHYH CL E G H	5264	773				ORPHA	1	37	127	8940	602026
HP:0001252	HP:0001252	Muscular hypotonia	0	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	1	8	87	23352	607532
HP:0001252	HP:0001252	Muscular hypotonia	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	32	329	26270	613629
HP:0001252	HP:0001252	Muscular hypotonia	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	32	329	26270	613629
HP:0001252	HP:0001252	Muscular hypotonia	0	PIGL CL E G H	9487	280000	Zunich neuroectodermal syndrome	280000	C1848392	OMIM	1	11	98	8966	605947
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA CL E G H	5290	60040				ORPHA	1	57	379	8975	171834
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA CL E G H	5290	144				ORPHA	1	57	379	8975	171834
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA CL E G H	5290	602501	Megalencephaly cutis marmorata telangiectatica congenita	602501	C1865285	OMIM	1	57	379	8975	171834
HP:0001252	HP:0001252	Muscular hypotonia	0	PLA2G6 CL E G H	8398	35069				ORPHA	1	179	289	9039	603604
HP:0001252	HP:0001252	Muscular hypotonia	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	179	289	9039	603604
HP:0001252	HP:0001252	Muscular hypotonia	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	42	440	9081	153454
HP:0001252	HP:0001252	Muscular hypotonia	0	PLP1 CL E G H	5354	312080	Pelizaeus-Merzbacher disease	312080	C0205711	OMIM	1	352	300	9086	300401
HP:0001252	HP:0001252	Muscular hypotonia	0	PLPBP CL E G H	11212	3006				ORPHA	1	12	66	9457	604436
HP:0001252	HP:0001252	Muscular hypotonia	0	PLXND1 CL E G H	23129	570				ORPHA	1	8	104	9107	604282
HP:0001252	HP:0001252	Muscular hypotonia	0	PMM2 CL E G H	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	212065	C0349653	OMIM	1	129	363	9115	601785
HP:0001252	HP:0001252	Muscular hypotonia	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	165	337	9118	601097
HP:0001252	HP:0001252	Muscular hypotonia	0	PMPCA CL E G H	23203	1170				ORPHA	1	8	96	18667	613036
HP:0001252	HP:0001252	Muscular hypotonia	0	PMS1 CL E G H	5378	144				ORPHA	1	36	65	9121	600258
HP:0001252	HP:0001252	Muscular hypotonia	0	PMS2 CL E G H	5395	144				ORPHA	1	363	2758	9122	600259
HP:0001252	HP:0001252	Muscular hypotonia	0	PNP CL E G H	4860	613179	Purine-nucleoside phosphorylase deficiency	613179	C0268125	OMIM	1	34	139	7892	164050
HP:0001252	HP:0001252	Muscular hypotonia	0	PNPLA6 CL E G H	10908	1173	CDG syndrome type 3			ORPHA	1	61	379	16268	603197
HP:0001252	HP:0001252	Muscular hypotonia	0	POLG CL E G H	5428	726				ORPHA	1	300	1196	9179	174763
HP:0001252	HP:0001252	Muscular hypotonia	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	1196	9179	174763
HP:0001252	HP:0001252	Muscular hypotonia	0	POMGNT1 CL E G H	55624	588				ORPHA	1	89	461	19139	606822
HP:0001252	HP:0001252	Muscular hypotonia	0	POMGNT1 CL E G H	55624	899				ORPHA	1	89	461	19139	606822
HP:0001252	HP:0001252	Muscular hypotonia	0	POMGNT2 CL E G H	84892	899				ORPHA	1	9	191	25902	614828
HP:0001252	HP:0001252	Muscular hypotonia	0	POMK CL E G H	84197	899				ORPHA	1	8	148	26267	615247
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT1 CL E G H	10585	588				ORPHA	1	96	508	9202	607423
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT1 CL E G H	10585	899				ORPHA	1	96	508	9202	607423
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	96	508	9202	607423
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT2 CL E G H	29954	899				ORPHA	1	75	502	19743	607439
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT2 CL E G H	29954	588				ORPHA	1	75	502	19743	607439
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	75	502	19743	607439
HP:0001252	HP:0001252	Muscular hypotonia	0	POU1F1 CL E G H	5449	226307				ORPHA	1	46	72	9210	173110
HP:0001252	HP:0001252	Muscular hypotonia	0	POU1F1 CL E G H	5449	613038	Pituitary hormone deficiency, combined 1	613038	C2751608	OMIM	1	46	72	9210	173110
HP:0001252	HP:0001252	Muscular hypotonia	0	PPM1B CL E G H	5495	163693				ORPHA	1	1	30	9276	603770
HP:0001252	HP:0001252	Muscular hypotonia	0	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	7	51	9302	605983
HP:0001252	HP:0001252	Muscular hypotonia	0	PPT1 CL E G H	5538	256730	Ceroid lipofuscinosis neuronal 1	256730	C1850451	OMIM	1	77	329	9325	600722
HP:0001252	HP:0001252	Muscular hypotonia	0	PRDM16 CL E G H	63976	1606				ORPHA	1	21	677	14000	605557
HP:0001252	HP:0001252	Muscular hypotonia	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	3	22	9352	176763
HP:0001252	HP:0001252	Muscular hypotonia	0	PREPL CL E G H	9581	163690				ORPHA	1	18	270	30228	609557
HP:0001252	HP:0001252	Muscular hypotonia	0	PREPL CL E G H	9581	163693				ORPHA	1	18	270	30228	609557
HP:0001252	HP:0001252	Muscular hypotonia	0	PRODH CL E G H	5625	239500	Proline dehydrogenase deficiency	239500	C0268529	OMIM	1	28	465	9453	606810
HP:0001252	HP:0001252	Muscular hypotonia	0	PROP1 CL E G H	5626	226307				ORPHA	1	42	150	9455	601538
HP:0001252	HP:0001252	Muscular hypotonia	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	32	259	9462	311850
HP:0001252	HP:0001252	Muscular hypotonia	0	PRPS1 CL E G H	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	300661	C1970827	OMIM	1	32	259	9462	311850
HP:0001252	HP:0001252	Muscular hypotonia	0	PRRT2 CL E G H	112476	306				ORPHA	1	105	501	30500	614386
HP:0001252	HP:0001252	Muscular hypotonia	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	62	699	13797	605725
HP:0001252	HP:0001252	Muscular hypotonia	0	PSAP CL E G H	5660	139406				ORPHA	1	27	220	9498	176801
HP:0001252	HP:0001252	Muscular hypotonia	0	PSAP CL E G H	5660	249900	Sphingolipid activator protein 1 deficiency	249900	C0268262	OMIM	1	27	220	9498	176801
HP:0001252	HP:0001252	Muscular hypotonia	0	PTCH1 CL E G H	5727	77301				ORPHA	1	529	2031	9585	601309
HP:0001252	HP:0001252	Muscular hypotonia	0	PTDSS1 CL E G H	9791	151050	Lenz-Majewski hyperostosis syndrome	151050	C0432269	OMIM	1	7	60	9587	612792
HP:0001252	HP:0001252	Muscular hypotonia	0	PTPN11 CL E G H	5781	648				ORPHA	1	143	475	9644	176876
HP:0001252	HP:0001252	Muscular hypotonia	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	1	112	98	9689	612719
HP:0001252	HP:0001252	Muscular hypotonia	0	PUS1 CL E G H	80324	2598	Mitochondrial myopathy and sideroblastic anemia		CN220387	ORPHA	1	9	161	15508	608109
HP:0001252	HP:0001252	Muscular hypotonia	0	PYCR1 CL E G H	5831	2078				ORPHA	1	41	144	9721	179035
HP:0001252	HP:0001252	Muscular hypotonia	0	QDPR CL E G H	5860	261630	Dihydropteridine reductase deficiency	261630	C0268465	OMIM	1	67	125	9752	612676
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB18 CL E G H	22931	2510				ORPHA	1	5	154	14244	602207
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP1 CL E G H	22930	2510				ORPHA	1	67	193	17063	602536
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	67	193	17063	602536
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP2 CL E G H	25782	2510				ORPHA	1	16	294	17168	609275
HP:0001252	HP:0001252	Muscular hypotonia	0	RAF1 CL E G H	5894	648				ORPHA	1	54	508	9829	164760
HP:0001252	HP:0001252	Muscular hypotonia	0	RAI1 CL E G H	10743	1713				ORPHA	1	116	404	9834	607642
HP:0001252	HP:0001252	Muscular hypotonia	0	RAI1 CL E G H	10743	819				ORPHA	1	116	404	9834	607642
HP:0001252	HP:0001252	Muscular hypotonia	0	RAP1A CL E G H	5906	2322				ORPHA	1	2	20	9855	179520
HP:0001252	HP:0001252	Muscular hypotonia	0	RAP1B CL E G H	5908	2322				ORPHA	1	1	19	9857	179530
HP:0001252	HP:0001252	Muscular hypotonia	0	RASA2 CL E G H	5922	648				ORPHA	1	3	73	9872	601589
HP:0001252	HP:0001252	Muscular hypotonia	0	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	1113	1195	9884	614041
HP:0001252	HP:0001252	Muscular hypotonia	0	RD3 CL E G H	343035	65				ORPHA	1	13	164	19689	180040
HP:0001252	HP:0001252	Muscular hypotonia	0	RDH12 CL E G H	145226	65				ORPHA	1	109	178	19977	608830
HP:0001252	HP:0001252	Muscular hypotonia	0	RERE CL E G H	473	1606				ORPHA	1	25	161	9965	605226
HP:0001252	HP:0001252	Muscular hypotonia	0	RET CL E G H	5979	99803	Haddad syndrome		C1859587	ORPHA	1	432	1496	9967	164761
HP:0001252	HP:0001252	Muscular hypotonia	0	RET CL E G H	5979	162300	Multiple endocrine neoplasia, type 2b	162300	C0025269	OMIM	1	432	1496	9967	164761
HP:0001252	HP:0001252	Muscular hypotonia	0	RETREG1 CL E G H	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	6	289	25964	613114
HP:0001252	HP:0001252	Muscular hypotonia	0	REV3L CL E G H	5980	570				ORPHA	1	9	124	9968	602776
HP:0001252	HP:0001252	Muscular hypotonia	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	173	9970	600404
HP:0001252	HP:0001252	Muscular hypotonia	0	RFT1 CL E G H	91869	244310				ORPHA	1	13	179	30220	611908
HP:0001252	HP:0001252	Muscular hypotonia	0	RIN2 CL E G H	54453	613075	Macrocephaly, alopecia, cutis laxa, and scoliosis	613075	C2751321	OMIM	1	4	155	18750	610222
HP:0001252	HP:0001252	Muscular hypotonia	0	RIT1 CL E G H	6016	648				ORPHA	1	26	106	10023	609591
HP:0001252	HP:0001252	Muscular hypotonia	0	RMRP CL E G H	6023	175				ORPHA	1	123	411	10031	157660
HP:0001252	HP:0001252	Muscular hypotonia	0	RNF216 CL E G H	54476	1173	CDG syndrome type 3			ORPHA	1	14	124	21698	609948
HP:0001252	HP:0001252	Muscular hypotonia	0	RPE65 CL E G H	6121	65				ORPHA	1	208	327	10294	180069
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1 CL E G H	57096	65				ORPHA	1	149	361	13436	605446
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L CL E G H	23322	220497				ORPHA	1	51	432	29168	610937
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	432	29168	610937
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	432	29168	610937
HP:0001252	HP:0001252	Muscular hypotonia	0	RPL10 CL E G H	6134	435938				ORPHA	1	6	242	10298	312173
HP:0001252	HP:0001252	Muscular hypotonia	0	RPS6KA3 CL E G H	6197	303600	Coffin-Lowry syndrome	303600	C0265252	OMIM	1	171	309	10432	300075
HP:0001252	HP:0001252	Muscular hypotonia	0	RPS6KA3 CL E G H	6197	192	Karandikar Maria Kamble syndrome			ORPHA	1	171	309	10432	300075
HP:0001252	HP:0001252	Muscular hypotonia	0	RRAS CL E G H	6237	648				ORPHA	1	2	75	10447	165090
HP:0001252	HP:0001252	Muscular hypotonia	0	RREB1 CL E G H	6239	567				ORPHA	1	12	171	10449	602209
HP:0001252	HP:0001252	Muscular hypotonia	0	RRM2B CL E G H	50484	480				ORPHA	1	43	216	17296	604712
HP:0001252	HP:0001252	Muscular hypotonia	0	RXYLT1 CL E G H	10329	899				ORPHA	1	8	106	13530	605862
HP:0001252	HP:0001252	Muscular hypotonia	0	RYR1 CL E G H	6261	597				ORPHA	1	688	3094	10483	180901
HP:0001252	HP:0001252	Muscular hypotonia	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	688	3094	10483	180901
HP:0001252	HP:0001252	Muscular hypotonia	0	SATB2 CL E G H	23314	251019				ORPHA	1	106	274	21637	608148
HP:0001252	HP:0001252	Muscular hypotonia	0	SC5D CL E G H	6309	46059				ORPHA	1	6	182	10547	602286
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN1A CL E G H	6323	33069				ORPHA	1	1611	2172	10585	182389
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN1B CL E G H	6324	33069				ORPHA	1	31	288	10586	600235
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN2A CL E G H	6326	306				ORPHA	1	268	1059	10588	182390
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN2A CL E G H	6326	33069				ORPHA	1	268	1059	10588	182390
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN8A CL E G H	6334	306				ORPHA	1	103	750	10596	600702
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN9A CL E G H	6335	33069				ORPHA	1	129	1092	10597	603415
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN9A CL E G H	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	201300	C2752089	OMIM	1	129	1092	10597	603415
HP:0001252	HP:0001252	Muscular 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	5	101	10603	603644
HP:0001252	HP:0001252	Muscular hypotonia	0	SCO2 CL E G H	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	604377	C1858424	OMIM	1	37	275	10604	604272
HP:0001252	HP:0001252	Muscular hypotonia	0	SDHA CL E G H	6389	255241				ORPHA	1	91	1279	10680	600857
HP:0001252	HP:0001252	Muscular hypotonia	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	91	1279	10680	600857
HP:0001252	HP:0001252	Muscular hypotonia	0	SEC24C CL E G H	9632	567				ORPHA	1		24	10705	607185
HP:0001252	HP:0001252	Muscular hypotonia	0	SEC24D CL E G H	9871	2050	Ectodermal dysplasia Margarita type			ORPHA	1	12	78	10706	607186
HP:0001252	HP:0001252	Muscular hypotonia	0	SELENON CL E G H	57190	2020				ORPHA	1	63	354	15999	606210
HP:0001252	HP:0001252	Muscular hypotonia	0	SELENON CL E G H	57190	602771	Eichsfeld type congenital muscular dystrophy	602771	C0410180	OMIM	1	63	354	15999	606210
HP:0001252	HP:0001252	Muscular hypotonia	0	SEMA3E CL E G H	9723	138				ORPHA	1	4	160	10727	608166
HP:0001252	HP:0001252	Muscular hypotonia	0	SEMA5A CL E G H	9037	281	Ramer Ladda syndrome			ORPHA	1	8	174	10736	609297
HP:0001252	HP:0001252	Muscular hypotonia	0	SETD2 CL E G H	29072	821				ORPHA	1	19	433	18420	612778
HP:0001252	HP:0001252	Muscular hypotonia	0	SIK1 CL E G H	150094	1935				ORPHA	1	7	414	11142	605705
HP:0001252	HP:0001252	Muscular hypotonia	0	SIL1 CL E G H	64374	559				ORPHA	1	49	167	24624	608005
HP:0001252	HP:0001252	Muscular hypotonia	0	SIM1 CL E G H	6492	171829				ORPHA	1	53	116	10882	603128
HP:0001252	HP:0001252	Muscular hypotonia	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	16	116	19353	607776
HP:0001252	HP:0001252	Muscular hypotonia	0	SIX3 CL E G H	6496	157170	Holoprosencephaly 2	157170	C1834877	OMIM	1	91	90	10889	603714
HP:0001252	HP:0001252	Muscular hypotonia	0	SIX6 CL E G H	4990	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	11	59	10892	606326
HP:0001252	HP:0001252	Muscular hypotonia	0	SKI CL E G H	6497	2462				ORPHA	1	24	502	10896	164780
HP:0001252	HP:0001252	Muscular hypotonia	0	SKI CL E G H	6497	1606				ORPHA	1	24	502	10896	164780
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC13A5 CL E G H	284111	3006				ORPHA	1	21	312	23089	608305
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC17A5 CL E G H	26503	604369	Salla disease	604369	C1096903	OMIM	1	55	192	10933	604322
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	55	192	10933	604322
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	38	318	16266	606152
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC22A5 CL E G H	6584	212140	Renal carnitine transport defect	212140	C0342788	OMIM	1	161	492	10969	603377
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A19 CL E G H	60386	99742				ORPHA	1	8	93	14409	606521
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A22 CL E G H	79751	1935				ORPHA	1	10	317	19954	609302
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A3 CL E G H	5250	91130				ORPHA	1	5	77	10989	600370
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A3 CL E G H	5250	610773	Mitochondrial phosphate carrier deficiency	610773	C1835845	OMIM	1	5	77	10989	600370
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A2 CL E G H	1836	628				ORPHA	1	55	318	10994	606718
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A4 CL E G H	5172	95713				ORPHA	1	564	560	8818	605646
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A4 CL E G H	5172	95720				ORPHA	1	564	560	8818	605646
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC34A3 CL E G H	142680	241530	Autosomal recessive hypophosphatemic bone disease	241530	C1853271	OMIM	1	40	223	20305	609826
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC35C1 CL E G H	55343	266265	Congenital disorder of glycosylation type 2C	266265	C0398739	OMIM	1	7	163	20197	605881
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC3A1 CL E G H	6519	163693				ORPHA	1	241	211	11025	104614
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	211	11025	104614
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC46A1 CL E G H	113235	229050	Congenital defect of folate absorption	229050	C0342705	OMIM	1	23	166	30521	611672
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	260	30224	607882
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	243	16187	613350
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	44	243	16187	613350
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC5A5 CL E G H	6528	95716				ORPHA	1	18	138	11040	601843
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC6A19 CL E G H	340024	2116	Encephalopathy-basal ganglia-calcification			ORPHA	1	25	208	27960	608893
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC6A8 CL E G H	6535	52503				ORPHA	1	139	542	11055	300036
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	67	252	11065	603593
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCA4 CL E G H	6597	1465				ORPHA	1	57	2473	11100	603254
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCB1 CL E G H	6598	1465				ORPHA	1	119	482	11103	601607
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCE1 CL E G H	6605	1465				ORPHA	1	13	287	11109	603111
HP:0001252	HP:0001252	Muscular hypotonia	0	SMC1A CL E G H	8243	319182				ORPHA	1	100	484	11111	300040
HP:0001252	HP:0001252	Muscular hypotonia	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	254	397	11120	607608
HP:0001252	HP:0001252	Muscular hypotonia	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	15	206	11123	300105
HP:0001252	HP:0001252	Muscular hypotonia	0	SNAP29 CL E G H	9342	609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	609528	C1836033	OMIM	1	13	527	11133	604202
HP:0001252	HP:0001252	Muscular hypotonia	0	SOS1 CL E G H	6654	648				ORPHA	1	75	665	11187	182530
HP:0001252	HP:0001252	Muscular hypotonia	0	SOS2 CL E G H	6655	648				ORPHA	1	6	324	11188	601247
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX10 CL E G H	6663	163746				ORPHA	1	151	192	11190	602229
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX11 CL E G H	6664	1465				ORPHA	1	14	70	11191	600898
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX2 CL E G H	6657	206900	Microphthalmia syndromic 3	206900	C1859773	OMIM	1	105	105	11195	184429
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX5 CL E G H	6660	313892				ORPHA	1	29	146	11201	604975
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	149	155	11204	608160
HP:0001252	HP:0001252	Muscular hypotonia	0	SPARC CL E G H	6678	616507	Osteogenesis imperfecta, type xvii	616507	C4225301	OMIM	1	5	34	11219	182120
HP:0001252	HP:0001252	Muscular hypotonia	0	SPATA7 CL E G H	55812	65				ORPHA	1	39	152	20423	609868
HP:0001252	HP:0001252	Muscular hypotonia	0	SPECC1L CL E G H	23384	145410	Opitz G/BBB syndrome	145410	C1801950	OMIM	1	8	156	29022	614140
HP:0001252	HP:0001252	Muscular hypotonia	0	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	7	163	10872	604402
HP:0001252	HP:0001252	Muscular hypotonia	0	STIM1 CL E G H	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	612783	C2748557	OMIM	1	25	242	11386	605921
HP:0001252	HP:0001252	Muscular hypotonia	0	STRA6 CL E G H	64220	601186	Microphthalmia syndromic 9	601186	C1832661	OMIM	1	33	194	30650	610745
HP:0001252	HP:0001252	Muscular hypotonia	0	STXBP1 CL E G H	6812	33069				ORPHA	1	195	538	11444	602926
HP:0001252	HP:0001252	Muscular hypotonia	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	29	189	11448	603921
HP:0001252	HP:0001252	Muscular hypotonia	0	SUCLG1 CL E G H	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	245400	C3151476	OMIM	1	28	120	11449	611224
HP:0001252	HP:0001252	Muscular hypotonia	0	SURF1 CL E G H	6834	255241				ORPHA	1	128	189	11474	185620
HP:0001252	HP:0001252	Muscular hypotonia	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	128	189	11474	185620
HP:0001252	HP:0001252	Muscular hypotonia	0	TACO1 CL E G H	51204	255241				ORPHA	1	3	57	24316	612958
HP:0001252	HP:0001252	Muscular 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	3	57	24316	612958
HP:0001252	HP:0001252	Muscular hypotonia	0	TBC1D20 CL E G H	128637	2510				ORPHA	1	7	102	16133	611663
HP:0001252	HP:0001252	Muscular hypotonia	0	TBC1D24 CL E G H	57465	220500	Digitorenocerebral syndrome	220500	C1857345	OMIM	1	56	564	29203	613577
HP:0001252	HP:0001252	Muscular hypotonia	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		159	11586	605842
HP:0001252	HP:0001252	Muscular hypotonia	0	TBX1 CL E G H	6899	567				ORPHA	1	82	553	11592	602054
HP:0001252	HP:0001252	Muscular hypotonia	0	TBX1 CL E G H	6899	1727				ORPHA	1	82	553	11592	602054
HP:0001252	HP:0001252	Muscular hypotonia	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	148	624	11634	602272
HP:0001252	HP:0001252	Muscular hypotonia	0	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	148	624	11634	602272
HP:0001252	HP:0001252	Muscular hypotonia	0	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	1	6	116	26113	609863
HP:0001252	HP:0001252	Muscular hypotonia	0	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	1	15	203	25774	613846
HP:0001252	HP:0001252	Muscular hypotonia	0	TG CL E G H	7038	95716				ORPHA	1	172	429	11764	188450
HP:0001252	HP:0001252	Muscular hypotonia	0	TGFBR2 CL E G H	7048	144				ORPHA	1	148	572	11773	190182
HP:0001252	HP:0001252	Muscular hypotonia	0	THRA CL E G H	7067	97927				ORPHA	1	14	34	11796	190120
HP:0001252	HP:0001252	Muscular hypotonia	0	THRB CL E G H	7068	97927				ORPHA	1	171	295	11799	190160
HP:0001252	HP:0001252	Muscular hypotonia	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	60	206	11831	188250
HP:0001252	HP:0001252	Muscular hypotonia	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	5	33	18188	614123
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM138 CL E G H	51524	2318				ORPHA	1	9	67	26944	614459
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM216 CL E G H	51259	2318				ORPHA	1	8	109	25018	613277
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	109	25018	613277
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM231 CL E G H	79583	2318				ORPHA	1	19	150	37234	614949
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237 CL E G H	65062	2318				ORPHA	1	11	221	14432	614423
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237 CL E G H	65062	220497				ORPHA	1	11	221	14432	614423
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	1	11	221	14432	614423
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	1	174	316	28396	609884
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	316	28396	609884
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	316	28396	609884
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67 CL E G H	91147	610688	Joubert syndrome 6	610688	C1853153	OMIM	1	174	316	28396	609884
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM70 CL E G H	54968	1194