Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of muscle physiology (HP:0011804)

Parent Node:
Abnormal muscle tone (HP:0003808)

..Starting node
..Muscular hypotonia (HP:0001252)

Term ID:

1252

Name:

Muscular hypotonia

Synonym:

Muscle hypotonia

Definition:

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.

Comments:

Reference:

HP:0001252

Genes and Diseases:

HPO-Disease-Gene Association for HP:0001252 and all of its descedant HPO terms

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	HGMD variants	ClinVar variants
HP:0001252	HP:0001252	Muscular hypotonia	0	A2ML1	144568	648	Noonan syndrome		ORPHA	12	120
HP:0001252	HP:0001252	Muscular hypotonia	0	AARS	16	616339	Epileptic encephalopathy, early infantile, 29	C4225361	OMIM	15	141
HP:0001252	HP:0001252	Muscular hypotonia	0	AASS	10157	238700	Hyperlysinemia	C0268553	OMIM	13	15
HP:0001252	HP:0001252	Muscular hypotonia	0	ABCD4	5826	614857	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE	C3553915	OMIM	5	53
HP:0001252	HP:0001252	Muscular hypotonia	0	ACACA	31	613933	Acetyl-CoA: carboxylase deficiency	C0268603	OMIM	2
HP:0001252	HP:0001252	Muscular hypotonia	0	ACAD8	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	C1969809	OMIM	21	58
HP:0001252	HP:0001252	Muscular hypotonia	0	ACAD9	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	C1970173	OMIM	41	98
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADM	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	C0220710	OMIM	168	197
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADS	35	201470	Deficiency of butyryl-CoA dehydrogenase	C0342783	OMIM	83	90
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADSB	36	610006	Deficiency of 2-methylbutyryl-CoA dehydrogenase	C1864912	OMIM	14	111
HP:0001252	HP:0001252	Muscular hypotonia	0	ACADVL	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	C0342784	OMIM	260	200
HP:0001252	HP:0001252	Muscular hypotonia	0	ACAT2	39	614055	Acetyl-CoA acetyltransferase-2 deficiency	C1863485	OMIM
HP:0001252	HP:0001252	Muscular hypotonia	0	ACO2	50	614559	Infantile cerebellar-retinal degeneration	C3281192	OMIM	12	60
HP:0001252	HP:0001252	Muscular hypotonia	0	ACOX1	51	2971	Peroxisomal acyl-CoA oxidase deficiency		ORPHA	24	120
HP:0001252	HP:0001252	Muscular hypotonia	0	ACP2	53	200950	Acid phosphatase deficiency	C0268410	OMIM	2
HP:0001252	HP:0001252	Muscular hypotonia	0	ACSL4	2182	86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		ORPHA	6	19
HP:0001252	HP:0001252	Muscular hypotonia	0	ACTA1	58	2020	Congenital fiber-type disproportion myopathy		ORPHA	205	96
HP:0001252	HP:0001252	Muscular hypotonia	0	ACTB	60	243310	Baraitser-Winter syndrome 1	C1855722	OMIM	27	72
HP:0001252	HP:0001252	Muscular hypotonia	0	ACY1	95	609924	Aminoacylase 1 deficiency	C1835922	OMIM	14	13
HP:0001252	HP:0001252	Muscular hypotonia	0	ADAT3	113179	615286	Mental retardation, autosomal recessive 36	C3809039	OMIM	1	9
HP:0001252	HP:0001252	Muscular hypotonia	0	ADCY6	112	2680	Hypomyelination neuropathy-arthrogryposis syndrome		ORPHA	4	2
HP:0001252	HP:0001252	Muscular hypotonia	0	ADCY6	112	616287	Lethal congenital contracture syndrome 8	C4225385	OMIM	4	2
HP:0001252	HP:0001252	Muscular hypotonia	0	ADK	132	614300	Hypermethioninemia due to adenosine kinase deficiency	C3280381	OMIM	12	26
HP:0001252	HP:0001252	Muscular hypotonia	0	ADNP	23394	615873	Helsmoortel-van der aa syndrome	C4014538	OMIM	47	47
HP:0001252	HP:0001252	Muscular hypotonia	0	ADSL	158	103050	Adenylosuccinate lyase deficiency	C0268126	OMIM	53	118
HP:0001252	HP:0001252	Muscular hypotonia	0	AGA	175	208400	Aspartylglycosaminuria	C0268225	OMIM	37	76
HP:0001252	HP:0001252	Muscular hypotonia	0	AGK	55750	212350	Cataract and cardiomyopathy	C1859317	OMIM	19	82
HP:0001252	HP:0001252	Muscular hypotonia	0	AHDC1	27245	615829	Xia-Gibbs syndrome	C4014419	OMIM	12	36
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1	54806	475	Acquired hypoprothrombinemia		ORPHA	84	175
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1	54806	608629	Joubert syndrome 3	C1837713	OMIM	84	175
HP:0001252	HP:0001252	Muscular hypotonia	0	AHI1	54806	220493	Joubert syndrome with ocular defect		ORPHA	84	175
HP:0001252	HP:0001252	Muscular hypotonia	0	AIPL1	23746	65	Leber congenital amaurosis		ORPHA	73	114
HP:0001252	HP:0001252	Muscular hypotonia	0	ALAD	210	612740	Porphobilinogen synthase deficiency	C0268328	OMIM	12	62
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH18A1	5832	616603	Cutis laxa, autosomal dominant 3	C4225268	OMIM	25	89
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH18A1	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	C0268354	OMIM	25	89
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH5A1	7915	22	22q13.3 deletion syndrome	C1853490	ORPHA	71	108
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH5A1	7915	271980	Succinate-semialdehyde dehydrogenase deficiency	C0268631	OMIM	71	108
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH6A1	4329	614105	Methylmalonate semialdehyde dehydrogenase deficiency	C1864150	OMIM	5	35
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH7A1	501	266100	Pyridoxine-dependent epilepsy	C1849508	OMIM	112	227
HP:0001252	HP:0001252	Muscular hypotonia	0	ALDH7A1	501	3006	Pyridoxine-dependent epilepsy		ORPHA	112	227
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG1	56052	608540	Congenital disorder of glycosylation type 1K	C1837896	OMIM	42	58
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG12	79087	79324	ALG12-CDG		ORPHA	13	68
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG13	79868	300884	Epileptic encephalopathy, early infantile, 36	C3550904	OMIM	6	96
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG3	10195	79321	ALG3-CDG		ORPHA	14	37
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG6	29929	79320	ALG6-CDG		ORPHA	26	66
HP:0001252	HP:0001252	Muscular hypotonia	0	ALG9	79796	79328	ALG9-CDG		ORPHA	4	93
HP:0001252	HP:0001252	Muscular hypotonia	0	ALPL	249	241500	Infantile hypophosphatasia	C0268412	OMIM	283	126
HP:0001252	HP:0001252	Muscular hypotonia	0	AMER1	139285	300373	Osteopathia striata with cranial sclerosis	C0432268	OMIM	34	34
HP:0001252	HP:0001252	Muscular hypotonia	0	AMMECR1	9949	86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		ORPHA	2	2
HP:0001252	HP:0001252	Muscular hypotonia	0	AMT	275	605899	Non-ketotic hyperglycinemia	C0751748	OMIM	95	56
HP:0001252	HP:0001252	Muscular hypotonia	0	ANK3	288	615493	Mental retardation, autosomal recessive 37	C3809672	OMIM	10	176
HP:0001252	HP:0001252	Muscular hypotonia	0	AP1S1	1174	609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	C1836330	OMIM	2	1
HP:0001252	HP:0001252	Muscular hypotonia	0	AP1S2	8905	85335	Fried syndrome		ORPHA	11	13
HP:0001252	HP:0001252	Muscular hypotonia	0	APC2	10297	821	Bardet-Biedl syndrome 2	C2936863	ORPHA	1	1
HP:0001252	HP:0001252	Muscular hypotonia	0	APOPT1	84334	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	5	17
HP:0001252	HP:0001252	Muscular hypotonia	0	AR	367	481	Kennedy disease		ORPHA	583	125
HP:0001252	HP:0001252	Muscular hypotonia	0	ARFGEF2	10564	608097	Heterotopia, periventricular, autosomal recessive	C1842563	OMIM	12	179
HP:0001252	HP:0001252	Muscular hypotonia	0	ARHGAP31	57514	100300	Adams-Oliver syndrome 1	CN028867	OMIM	4	147
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1A	8289	1465	Coffin-Siris syndrome		ORPHA	13	88
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1B	57492	1465	Coffin-Siris syndrome		ORPHA	139	219
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1B	57492	135900	Coffin-Siris syndrome 1	CN029606	OMIM	139	219
HP:0001252	HP:0001252	Muscular hypotonia	0	ARID1B	57492	614562	Mental retardation, autosomal dominant 12	C3281201	OMIM	139	219
HP:0001252	HP:0001252	Muscular hypotonia	0	ARL13B	200894	475	Acquired hypoprothrombinemia		ORPHA	9	62
HP:0001252	HP:0001252	Muscular hypotonia	0	ARL13B	200894	612291	Joubert syndrome 8	C2676771	OMIM	9	62
HP:0001252	HP:0001252	Muscular hypotonia	0	ARSA	410	250100	Metachromatic leukodystrophy	C0023522	OMIM	217	253
HP:0001252	HP:0001252	Muscular hypotonia	0	ARVCF	421	567	22q11.2 deletion syndrome		ORPHA	1	1
HP:0001252	HP:0001252	Muscular hypotonia	0	ARX	170302	300215	Lissencephaly 2, X-linked	C1846171	OMIM	82	166
HP:0001252	HP:0001252	Muscular hypotonia	0	ARX	170302	452	X-linked lissencephaly with abnormal genitalia		ORPHA	82	166
HP:0001252	HP:0001252	Muscular hypotonia	0	ASCL1	429	99803	Haddad syndrome	C1859587	ORPHA	6	15
HP:0001252	HP:0001252	Muscular hypotonia	0	ASPA	443	314911	Severe Canavan disease		ORPHA	102	48
HP:0001252	HP:0001252	Muscular hypotonia	0	ASPA	443	271900	Spongy degeneration of central nervous system	C0206307	OMIM	102	48
HP:0001252	HP:0001252	Muscular hypotonia	0	ASXL1	171023	605039	C-like syndrome	C0796232	OMIM	28	145
HP:0001252	HP:0001252	Muscular hypotonia	0	ATCAY	85300	601238	Cerebellar ataxia, cayman type	C1832585	OMIM	2	72
HP:0001252	HP:0001252	Muscular hypotonia	0	ATIC	471	608688	AICAR transformylase/IMP cyclohydrolase deficiency	C1837530	OMIM	2	4
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP5A1	498	616045	Combined oxidative phosphorylation deficiency 22	C4015062	OMIM	3	25
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP6V0A2	23545	219200	Cutis laxa with osteodystrophy	C0268355	OMIM	53	140
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP6V0A2	23545	278250	Wrinkly skin syndrome	C0406587	OMIM	53	140
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP7A	538	565	Menkes disease		ORPHA	337	192
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP8	4509	480	Acrorenal mandibular syndrome	C1860166	ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	ATP8A2	51761	1766	Dysequilibrium syndrome		ORPHA	6	24
HP:0001252	HP:0001252	Muscular hypotonia	0	ATPAF2	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	C2700431	OMIM	1	32
HP:0001252	HP:0001252	Muscular hypotonia	0	ATRX	546	847	Alpha-thalassemia-X-linked intellectual disability syndrome		ORPHA	152	169
HP:0001252	HP:0001252	Muscular hypotonia	0	ATXN1	6310	164400	Spinocerebellar ataxia 1	C0752120	OMIM	7	19
HP:0001252	HP:0001252	Muscular hypotonia	0	ATXN2	6311	183090	Spinocerebellar ataxia 2	C0752121	OMIM	39	11
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALNT2	148789	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	13	43
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALT6	126792	75496	Ehlers-Danlos syndrome, progeroid type		ORPHA	22	38
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALT6	126792	615349	Ehlers-Danlos syndrome, progeroid type, 2	C3809210	OMIM	22	38
HP:0001252	HP:0001252	Muscular hypotonia	0	B3GALT6	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	C0432243	OMIM	22	38
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT1	2683	79332	B4GALT1-CDG		ORPHA	2	85
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT1	2683	607091	Congenital disorder of glycosylation type 2D	C1846816	OMIM	2	85
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT7	11285	130070	Ehlers-Danlos syndrome progeroid type	C1869122	OMIM	8	29
HP:0001252	HP:0001252	Muscular hypotonia	0	B4GALT7	11285	75496	Ehlers-Danlos syndrome, progeroid type		ORPHA	8	29
HP:0001252	HP:0001252	Muscular hypotonia	0	B9D1	27077	475	Acquired hypoprothrombinemia		ORPHA	9	28
HP:0001252	HP:0001252	Muscular hypotonia	0	BAZ1B	9031	904	Blepharophimosis nasal groove growth retardation		ORPHA	2
HP:0001252	HP:0001252	Muscular hypotonia	0	BCKDHA	593	248600	Maple syrup urine disease	C0024776	OMIM	91	120
HP:0001252	HP:0001252	Muscular hypotonia	0	BCKDHB	594	248600	Maple syrup urine disease	C0024776	OMIM	94	162
HP:0001252	HP:0001252	Muscular hypotonia	0	BCOR	54880	309800	Lenz microphthalmia syndrome	C0796016	OMIM	45	101
HP:0001252	HP:0001252	Muscular hypotonia	0	BCS1L	617	256000	Leigh syndrome	C0023264	OMIM	37	72
HP:0001252	HP:0001252	Muscular hypotonia	0	BCS1L	617	124000	Mitochondrial complex III deficiency	C1852372	OMIM	37	72
HP:0001252	HP:0001252	Muscular hypotonia	0	BMP4	652	264200	14q22q23 microdeletion syndrome		ORPHA	43	38
HP:0001252	HP:0001252	Muscular hypotonia	0	BMPER	168667	608022	Diaphanospondylodysostosis	C1842691	OMIM	13	78
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF	673	115150	Cardiofaciocutaneous syndrome 1	CN029449	OMIM	61	276
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF	673	1340	Chromosome 4, monosomy 4q	C0265404	ORPHA	61	276
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF	673	648	Noonan syndrome		ORPHA	61	276
HP:0001252	HP:0001252	Muscular hypotonia	0	BRAF	673	613706	Noonan syndrome 7	C3150970	OMIM	61	276
HP:0001252	HP:0001252	Muscular hypotonia	0	BRWD3	254065	300659	Mental retardation, X-linked 93	C1970841	OMIM	10	104
HP:0001252	HP:0001252	Muscular hypotonia	0	BSND	7809	602522	Bartter syndrome type 4	C1865270	OMIM	21	53
HP:0001252	HP:0001252	Muscular hypotonia	0	BTD	686	253260	Biotinidase deficiency	C0220754	OMIM	233	223
HP:0001252	HP:0001252	Muscular hypotonia	0	BTD	686	79241	Biotinidase deficiency		ORPHA	233	223
HP:0001252	HP:0001252	Muscular hypotonia	0	C12ORF57	113246	218340	Temtamy syndrome	C1857512	OMIM	4	13
HP:0001252	HP:0001252	Muscular hypotonia	0	C12ORF65	91574	613559	Combined oxidative phosphorylation deficiency 7	C3150801	OMIM	10	40
HP:0001252	HP:0001252	Muscular hypotonia	0	C5ORF42	65250	475	Acquired hypoprothrombinemia		ORPHA	97	237
HP:0001252	HP:0001252	Muscular hypotonia	0	C5ORF42	65250	277170	Orofaciodigital syndrome 6	C2745997	OMIM	97	237
HP:0001252	HP:0001252	Muscular hypotonia	0	CA8	767	1766	Dysequilibrium syndrome		ORPHA	4	8
HP:0001252	HP:0001252	Muscular hypotonia	0	CAD	790	616457	Congenital disorder of glycosylation type 1z	C4225320	OMIM	9	10
HP:0001252	HP:0001252	Muscular hypotonia	0	CAMKMT	79823	163693	2p21 microdeletion syndrome		ORPHA		1
HP:0001252	HP:0001252	Muscular hypotonia	0	CANT1	124583	251450	Desbuquois dysplasia 1	C4012146	OMIM	25	85
HP:0001252	HP:0001252	Muscular hypotonia	0	CASR	846	417	Aloi Tomasini Isaia syndrome		ORPHA	395	272
HP:0001252	HP:0001252	Muscular hypotonia	0	CASR	846	239200	Neonatal severe hyperparathyroidism	C1832615	OMIM	395	272
HP:0001252	HP:0001252	Muscular hypotonia	0	CBL	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	C3150803	OMIM	34	317
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A	57545	216360	COACH syndrome	C1857662	OMIM	83	247
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A	57545	1454	Common atrioventricular canal	C0221215	ORPHA	83	247
HP:0001252	HP:0001252	Muscular hypotonia	0	CC2D2A	57545	2318	Joubert syndrome with oculorenal defect		ORPHA	83	247
HP:0001252	HP:0001252	Muscular hypotonia	0	CCDC22	28952	7	Acromicric dysplasia	C0265287	ORPHA	6	33
HP:0001252	HP:0001252	Muscular hypotonia	0	CCDC22	28952	300963	Ritscher-schinzel syndrome 2	C4225419	OMIM	6	33
HP:0001252	HP:0001252	Muscular hypotonia	0	CCDC78	124093	614807	Myopathy, centronuclear, 4	C3553709	OMIM	2	25
HP:0001252	HP:0001252	Muscular hypotonia	0	CD59	966	612300	Cd59 deficiency	C2676767	OMIM	6	3
HP:0001252	HP:0001252	Muscular hypotonia	0	CD96	10225	211750	C syndrome	C0796095	OMIM	2	83
HP:0001252	HP:0001252	Muscular hypotonia	0	CD96	10225	1308	Chorioretinopathy dominant form microcephaly		ORPHA	2	83
HP:0001252	HP:0001252	Muscular hypotonia	0	CDKL5	6792	300672	Early infantile epileptic encephalopathy 2	C1839333	OMIM	275	405
HP:0001252	HP:0001252	Muscular hypotonia	0	CDKN1C	1028	85173	IMAGe syndrome		ORPHA	81	114
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP104	9731	475	Acquired hypoprothrombinemia		ORPHA	4	5
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP120	153241	475	Acquired hypoprothrombinemia		ORPHA	9	7
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP120	153241	220493	Joubert syndrome with ocular defect		ORPHA	9	7
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290	80184	610188	Joubert syndrome 5	C1857780	OMIM	265	342
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290	80184	2318	Joubert syndrome with oculorenal defect		ORPHA	265	342
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP290	80184	65	Leber congenital amaurosis		ORPHA	265	342
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP41	95681	475	Acquired hypoprothrombinemia		ORPHA	10	90
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP41	95681	614464	Joubert syndrome 15	C3280897	OMIM	10	90
HP:0001252	HP:0001252	Muscular hypotonia	0	CEP41	95681	220493	Joubert syndrome with ocular defect		ORPHA	10	90
HP:0001252	HP:0001252	Muscular hypotonia	0	CFL2	1073	610687	Nemaline myopathy 7	C1853154	OMIM	5	35
HP:0001252	HP:0001252	Muscular hypotonia	0	CHAMP1	283489	616579	Mental retardation, autosomal dominant 40	C4225275	OMIM	15	16
HP:0001252	HP:0001252	Muscular hypotonia	0	CHD7	55636	138	CHARGE syndrome		ORPHA	757	515
HP:0001252	HP:0001252	Muscular hypotonia	0	CHL1	10752	1620	Cryptogenic Organizing Pneumonia		ORPHA	11	9
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRNB1	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	C4225374	OMIM	8	53
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRNB1	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	C4225373	OMIM	8	53
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRND	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	C4225372	OMIM	21	88
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRND	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	C4225371	OMIM	21	88
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRND	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	C4225370	OMIM	21	88
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRNE	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	C4225369	OMIM	126	139
HP:0001252	HP:0001252	Muscular hypotonia	0	CHRNE	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	C1837091	OMIM	126	139
HP:0001252	HP:0001252	Muscular hypotonia	0	CHST14	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	C1866294	OMIM	21	27
HP:0001252	HP:0001252	Muscular hypotonia	0	CLCNKA	1187	613090	Bartter syndrome, type 4b	C2751312	OMIM	4	9
HP:0001252	HP:0001252	Muscular hypotonia	0	CLCNKB	1188	613090	Bartter syndrome, type 4b	C2751312	OMIM	99	27
HP:0001252	HP:0001252	Muscular hypotonia	0	CLIP2	7461	904	Blepharophimosis nasal groove growth retardation		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	CLPB	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	C4225393	OMIM	21	38
HP:0001252	HP:0001252	Muscular hypotonia	0	CNTN4	152330	1620	Cryptogenic Organizing Pneumonia		ORPHA	16	53
HP:0001252	HP:0001252	Muscular hypotonia	0	CNTNAP1	8506	2680	Hypomyelination neuropathy-arthrogryposis syndrome		ORPHA	11	9
HP:0001252	HP:0001252	Muscular hypotonia	0	CNTNAP1	8506	616286	Lethal congenital contracture syndrome 7	C4225386	OMIM	11	9
HP:0001252	HP:0001252	Muscular hypotonia	0	COA5	493753	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	2
HP:0001252	HP:0001252	Muscular hypotonia	0	COA6	388753	616501	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	C4225304	OMIM	3	8
HP:0001252	HP:0001252	Muscular hypotonia	0	COG1	9382	611209	Congenital disorder of glycosylation type 2G	C1970016	OMIM	2	52
HP:0001252	HP:0001252	Muscular hypotonia	0	COG5	10466	613612	Congenital disorder of glycosylation type 2i	C3150876	OMIM	10	79
HP:0001252	HP:0001252	Muscular hypotonia	0	COG7	91949	79333	COG7-CDG		ORPHA	4	64
HP:0001252	HP:0001252	Muscular hypotonia	0	COG8	84342	611182	Congenital disorder of glycosylation type 2H	C1970021	OMIM	5	39
HP:0001252	HP:0001252	Muscular hypotonia	0	COL12A1	1303	616471	Bethlem myopathy 2	C4225313	OMIM	8	65
HP:0001252	HP:0001252	Muscular hypotonia	0	COL13A1	1305	616720	Myasthenic syndrome, congenital, 19	C4225235	OMIM	2	6
HP:0001252	HP:0001252	Muscular hypotonia	0	COL1A1	1277	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	C0268345	OMIM	916	373
HP:0001252	HP:0001252	Muscular hypotonia	0	COL1A2	1278	130060	Ehlers-Danlos syndrome, procollagen proteinase deficient	C0268345	OMIM	485	243
HP:0001252	HP:0001252	Muscular hypotonia	0	COL2A1	1280	183900	Spondyloepiphyseal dysplasia congenita	C0038015	OMIM	541	284
HP:0001252	HP:0001252	Muscular hypotonia	0	COLQ	8292	603034	Endplate acetylcholinesterase deficiency	C1864233	OMIM	67	90
HP:0001252	HP:0001252	Muscular hypotonia	0	COMT	1312	567	22q11.2 deletion syndrome		ORPHA	11	6
HP:0001252	HP:0001252	Muscular hypotonia	0	COQ4	51117	616276	Coenzyme Q10 deficiency, primary, 7	C4225392	OMIM	12	24
HP:0001252	HP:0001252	Muscular hypotonia	0	COQ8A	56997	612016	Coenzyme Q10 deficiency, primary, 4	C2677589	OMIM	37	136
HP:0001252	HP:0001252	Muscular hypotonia	0	COQ9	57017	614654	Coenzyme Q10 deficiency, primary, 5	C3553374	OMIM	3	44
HP:0001252	HP:0001252	Muscular hypotonia	0	COX10	1352	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	13	82
HP:0001252	HP:0001252	Muscular hypotonia	0	COX10	1352	256000	Leigh syndrome	C0023264	OMIM	13	82
HP:0001252	HP:0001252	Muscular hypotonia	0	COX14	84987	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	4
HP:0001252	HP:0001252	Muscular hypotonia	0	COX15	1355	615119	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	C3554534	OMIM	5	104
HP:0001252	HP:0001252	Muscular hypotonia	0	COX15	1355	256000	Leigh syndrome	C0023264	OMIM	5	104
HP:0001252	HP:0001252	Muscular hypotonia	0	COX20	116228	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	1	25
HP:0001252	HP:0001252	Muscular hypotonia	0	COX6B1	1340	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	3	10
HP:0001252	HP:0001252	Muscular hypotonia	0	CPS1	1373	147	Macrocephaly, benign familial	C0220690	ORPHA	261	124
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT1A	1374	156	Carnitine palmitoyl transferase 1A deficiency		ORPHA	43	99
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT1A	1374	255120	Carnitine palmitoyltransferase I deficiency	C0342789	OMIM	43	99
HP:0001252	HP:0001252	Muscular hypotonia	0	CPT2	1376	228308	Carnitine palmitoyl transferase II deficiency, neonatal form		ORPHA	104	101
HP:0001252	HP:0001252	Muscular hypotonia	0	CRB1	23418	65	Leber congenital amaurosis		ORPHA	303	156
HP:0001252	HP:0001252	Muscular hypotonia	0	CRBN	51185	1620	Cryptogenic Organizing Pneumonia		ORPHA	4	19
HP:0001252	HP:0001252	Muscular hypotonia	0	CREBBP	1387	180849	Rubinstein-Taybi syndrome	C0035934	OMIM	335	291
HP:0001252	HP:0001252	Muscular hypotonia	0	CRX	1406	65	Leber congenital amaurosis		ORPHA	92	158
HP:0001252	HP:0001252	Muscular hypotonia	0	CSPP1	79848	475	Acquired hypoprothrombinemia		ORPHA	25	57
HP:0001252	HP:0001252	Muscular hypotonia	0	CSPP1	79848	615636	Joubert syndrome 21	C3810212	OMIM	25	57
HP:0001252	HP:0001252	Muscular hypotonia	0	CTCF	10664	615502	Mental retardation, autosomal dominant 21	C3809686	OMIM	4	20
HP:0001252	HP:0001252	Muscular hypotonia	0	CTNNB1	1499	615075	Mental retardation, autosomal dominant 19	C3554449	OMIM	39	88
HP:0001252	HP:0001252	Muscular hypotonia	0	CTNND2	1501	281	Ramer Ladda syndrome		ORPHA	35	15
HP:0001252	HP:0001252	Muscular hypotonia	0	CUL4B	8450	300354	Syndromic X-linked mental retardation, Cabezas type	C1845861	OMIM	35	38
HP:0001252	HP:0001252	Muscular hypotonia	0	CWF19L1	55280	616127	Spinocerebellar ataxia, autosomal recessive 17	C4015301	OMIM	4	9
HP:0001252	HP:0001252	Muscular hypotonia	0	CYP24A1	1591	143880	Idiopathic hypercalcemia of infancy	C0268080	OMIM	40	73
HP:0001252	HP:0001252	Muscular hypotonia	0	CYP27B1	1594	264700	Vitamin D-dependent rickets, type 1	C0268689	OMIM	77	41
HP:0001252	HP:0001252	Muscular hypotonia	0	CYP2R1	120227	600081	Vitamin d hydroxylation-deficient rickets, type 1b	C1838657	OMIM	5	5
HP:0001252	HP:0001252	Muscular hypotonia	0	D2HGDH	728294	600721	D-2-hydroxyglutaric aciduria 1	C3152055	OMIM	32	102
HP:0001252	HP:0001252	Muscular hypotonia	0	DAG1	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	C4225291	OMIM	11	108
HP:0001252	HP:0001252	Muscular hypotonia	0	DBT	1629	248600	Maple syrup urine disease	C0024776	OMIM	71	156
HP:0001252	HP:0001252	Muscular hypotonia	0	DCHS1	8642	601390			OMIM	10	27
HP:0001252	HP:0001252	Muscular hypotonia	0	DCPS	28960	616459	AL-RAQAD SYNDROME	C4085595	OMIM	2	5
HP:0001252	HP:0001252	Muscular hypotonia	0	DCX	1641	2148	Epidermolysis bullosa simplex, Ogna type	C0432317	ORPHA	138	145
HP:0001252	HP:0001252	Muscular hypotonia	0	DDOST	1650	614507	Congenital order of glycosylation type 1r	C3281084	OMIM	2	62
HP:0001252	HP:0001252	Muscular hypotonia	0	DDR2	4921	271665	Spondylometaepiphyseal dysplasia short limb-hand type	C1849011	OMIM	7	45
HP:0001252	HP:0001252	Muscular hypotonia	0	DDX11	1663	613398	Warsaw breakage syndrome	C3150658	OMIM	6	13
HP:0001252	HP:0001252	Muscular hypotonia	0	DDX3X	1654	300958	Mental retardation, X-linked 102	C4085582	OMIM	43	57
HP:0001252	HP:0001252	Muscular hypotonia	0	DGCR14	8220	192430	Shprintzen syndrome	C0220704	OMIM	1
HP:0001252	HP:0001252	Muscular hypotonia	0	DGCR2	9993	192430	Shprintzen syndrome	C0220704	OMIM	1
HP:0001252	HP:0001252	Muscular hypotonia	0	DGCR6	8214	192430	Shprintzen syndrome	C0220704	OMIM	3
HP:0001252	HP:0001252	Muscular hypotonia	0	DGCR8	54487	192430	Shprintzen syndrome	C0220704	OMIM	1
HP:0001252	HP:0001252	Muscular hypotonia	0	DGUOK	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	C3151513	OMIM	60	57
HP:0001252	HP:0001252	Muscular hypotonia	0	DHCR7	1717	818	Smith-Lemli-Opitz syndrome		ORPHA	198	159
HP:0001252	HP:0001252	Muscular hypotonia	0	DHFR	1719	613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	C3151205	OMIM	6	7
HP:0001252	HP:0001252	Muscular hypotonia	0	DHTKD1	55526	204750	2-aminoadipic 2-oxoadipic aciduria	C1859817	OMIM	16	12
HP:0001252	HP:0001252	Muscular hypotonia	0	DLD	1738	246900	Maple syrup urine disease, type 3	CN043137	OMIM	22	89
HP:0001252	HP:0001252	Muscular hypotonia	0	DLG3	1741	300850	X-Linked mental retardation 90	C3275443	OMIM	13	30
HP:0001252	HP:0001252	Muscular hypotonia	0	DMD	1756	310200	Duchenne muscular dystrophy	C0013264	OMIM	3578	1496
HP:0001252	HP:0001252	Muscular hypotonia	0	DMPK	1760	160900	Steinert myotonic dystrophy syndrome	C0027126	OMIM	7	152
HP:0001252	HP:0001252	Muscular hypotonia	0	DMPK	1760	273	Wrinkly skin syndrome	C0406587	ORPHA	7	152
HP:0001252	HP:0001252	Muscular hypotonia	0	DNM1	1759	616346	Epileptic encephalopathy, early infantile, 31	C4225357	OMIM	17	72
HP:0001252	HP:0001252	Muscular hypotonia	0	DNM1L	10059	614388	Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission	C3280660	OMIM	16	94
HP:0001252	HP:0001252	Muscular hypotonia	0	DNM2	1785	615368	Lethal congenital contracture syndrome 5	C3809272	OMIM	45	167
HP:0001252	HP:0001252	Muscular hypotonia	0	DOCK6	57572	614219	Adams-Oliver syndrome 2	C3280182	OMIM	19	18
HP:0001252	HP:0001252	Muscular hypotonia	0	DPAGT1	1798	608093	Congenital disorder of glycosylation type 1J	C1842572	OMIM	28	38
HP:0001252	HP:0001252	Muscular hypotonia	0	DPAGT1	1798	614750	Congenital myasthenic syndrome 13	C3553645	OMIM	28	38
HP:0001252	HP:0001252	Muscular hypotonia	0	DPAGT1	1798	86309	DPAGT1-CDG		ORPHA	28	38
HP:0001252	HP:0001252	Muscular hypotonia	0	DPM1	8813	608799	Congenital disorder of glycosylation type 1E	C1837396	OMIM	9	27
HP:0001252	HP:0001252	Muscular hypotonia	0	DPM1	8813	79322	DPM1-CDG		ORPHA	9	27
HP:0001252	HP:0001252	Muscular hypotonia	0	DPYD	1806	274270	Dihydropyrimidine dehydrogenase deficiency	C2720286	OMIM	97	144
HP:0001252	HP:0001252	Muscular hypotonia	0	DUOX2	50506	95716	Familial thyroid dyshormonogenesis		ORPHA	130	121
HP:0001252	HP:0001252	Muscular hypotonia	0	DUOXA2	405753	95716	Familial thyroid dyshormonogenesis		ORPHA	15	11
HP:0001252	HP:0001252	Muscular hypotonia	0	DYNC1H1	1778	614563	Mental retardation, autosomal dominant 13	C3281202	OMIM	55	427
HP:0001252	HP:0001252	Muscular hypotonia	0	EBP	10682	300960	MEND syndrome	C4085243	OMIM	89	51
HP:0001252	HP:0001252	Muscular hypotonia	0	ECHS1	1892	616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	C4225391	OMIM	30	33
HP:0001252	HP:0001252	Muscular hypotonia	0	EDNRB	1910	277580	Waardenburg syndrome type 4A	C1848519	OMIM	67	55
HP:0001252	HP:0001252	Muscular hypotonia	0	EEF1A2	1917	616409	Epileptic encephalopathy, early infantile, 33	C4225337	OMIM	10	60
HP:0001252	HP:0001252	Muscular hypotonia	0	EEF1A2	1917	616393	Mental retardation, autosomal dominant 38	C4225343	OMIM	10	60
HP:0001252	HP:0001252	Muscular hypotonia	0	EFEMP2	30008	614437	Autosomal recessive cutis laxa type 1B	C3280798	OMIM	15	45
HP:0001252	HP:0001252	Muscular hypotonia	0	EFNB1	1947	304110	Craniofrontonasal dysplasia	C0220767	OMIM	115	27
HP:0001252	HP:0001252	Muscular hypotonia	0	EFNB1	1947	1520	Craniofrontonasal dysplasia		ORPHA	115	27
HP:0001252	HP:0001252	Muscular hypotonia	0	EGR2	1959	145900	Dejerine-Sottas disease	C0011195	OMIM	23	58
HP:0001252	HP:0001252	Muscular hypotonia	0	EHMT1	79813	610253	Chromosome 9q deletion syndrome	C0795833	OMIM	73	223
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2AK3	9451	1667	Dandy-Walker malformation with facial hemangioma		ORPHA	74	65
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B1	1967	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	9	42
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B2	8892	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	26	24
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B3	8891	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	20	32
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B4	8890	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	32	38
HP:0001252	HP:0001252	Muscular hypotonia	0	EIF2B5	8893	603896	Leukoencephalopathy with vanishing white matter	C1858991	OMIM	95	48
HP:0001252	HP:0001252	Muscular hypotonia	0	ELAC2	60528	615440	Combined oxidative phosphorylation deficiency 17	C3809526	OMIM	16	67
HP:0001252	HP:0001252	Muscular hypotonia	0	ELN	2006	904	Blepharophimosis nasal groove growth retardation		ORPHA	108	172
HP:0001252	HP:0001252	Muscular hypotonia	0	ELN	2006	194050	Williams syndrome	C0175702	OMIM	108	172
HP:0001252	HP:0001252	Muscular hypotonia	0	EP300	2033	180849	Rubinstein-Taybi syndrome	C0035934	OMIM	76	250
HP:0001252	HP:0001252	Muscular hypotonia	0	EPCAM	4072	144	Mac Dermot Winter syndrome	C0796024	ORPHA	67	170
HP:0001252	HP:0001252	Muscular hypotonia	0	EPG5	57724	242840	Absent corpus callosum cataract immunodeficiency	C1855772	OMIM	45	40
HP:0001252	HP:0001252	Muscular hypotonia	0	EPG5	57724	1493	Congenital mesoblastic nephroma		ORPHA	45	40
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC1	2067	1466	COFS syndrome		ORPHA	7	20
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC2	2068	1466	COFS syndrome		ORPHA	94	106
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC5	2073	1466	COFS syndrome		ORPHA	53	83
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC6	2074	214150	Cerebro-oculo-facio-skeletal syndrome	C0220722	OMIM	96	199
HP:0001252	HP:0001252	Muscular hypotonia	0	ERCC6	2074	1466	COFS syndrome		ORPHA	96	199
HP:0001252	HP:0001252	Muscular hypotonia	0	ERF	2077	3267	Familial lambdoid synostosis		ORPHA	13	12
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFA	2108	231680	Glutaric aciduria, type 2	C0268596	OMIM	28	37
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFB	2109	231680	Glutaric aciduria, type 2	C0268596	OMIM	13	27
HP:0001252	HP:0001252	Muscular hypotonia	0	ETFDH	2110	231680	Glutaric aciduria, type 2	C0268596	OMIM	168	77
HP:0001252	HP:0001252	Muscular hypotonia	0	ETHE1	23474	602473	Ethylmalonic encephalopathy	C1865349	OMIM	34	42
HP:0001252	HP:0001252	Muscular hypotonia	0	EXT2	2132	616682	Seizures, scoliosis, and macrocephaly syndrome	C4225248	OMIM	231	102
HP:0001252	HP:0001252	Muscular hypotonia	0	EZH2	2146	277590	Weaver syndrome	C0265210	OMIM	37	81
HP:0001252	HP:0001252	Muscular hypotonia	0	FAN1	22909	144	Mac Dermot Winter syndrome	C0796024	ORPHA	19	15
HP:0001252	HP:0001252	Muscular hypotonia	0	FAR1	84188	616154	Peroxisomal fatty acyl-coa reductase 1 disorder	C4015344	OMIM	3	7
HP:0001252	HP:0001252	Muscular hypotonia	0	FARS2	10667	614946	Combined oxidative phosphorylation deficiency 14	C3554168	OMIM	16	36
HP:0001252	HP:0001252	Muscular hypotonia	0	FASTKD2	22868	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	122
HP:0001252	HP:0001252	Muscular hypotonia	0	FAT4	79633	615546	Van Maldergem syndrome 2	C3809875	OMIM	20	114
HP:0001252	HP:0001252	Muscular hypotonia	0	FBN1	2200	284979	Neonatal Marfan syndrome		ORPHA	2067	1361
HP:0001252	HP:0001252	Muscular hypotonia	0	FBP1	2203	229700	Fructose-biphosphatase deficiency	C0016756	OMIM	40	64
HP:0001252	HP:0001252	Muscular hypotonia	0	FBXL4	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	C3809592	OMIM	34	384
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3	2261	15	Antisocial personality disorder		ORPHA	69	145
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3	2261	1860	Thanatophoric dysplasia type 1		ORPHA	69	145
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3	2261	187600	Thanatophoric dysplasia type 1	C1868678	OMIM	69	145
HP:0001252	HP:0001252	Muscular hypotonia	0	FGFR3	2261	93274	Thanatophoric dysplasia type 2		ORPHA	69	145
HP:0001252	HP:0001252	Muscular hypotonia	0	FH	2271	606812	Fumarase deficiency	C0342770	OMIM	172	301
HP:0001252	HP:0001252	Muscular hypotonia	0	FIG4	9896	216340	Yunis Varon syndrome	C1857663	OMIM	58	111
HP:0001252	HP:0001252	Muscular hypotonia	0	FKBP14	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	C3281160	OMIM	4	13
HP:0001252	HP:0001252	Muscular hypotonia	0	FKRP	79147	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	114	157
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN	2218	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	51	184
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	C2751052	OMIM	51	184
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN	2218	253800	Fukuyama congenital muscular dystrophy	C0410174	OMIM	51	184
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	C1969040	OMIM	51	184
HP:0001252	HP:0001252	Muscular hypotonia	0	FKTN	2218	272	VACTERL hydrocephaly		ORPHA	51	184
HP:0001252	HP:0001252	Muscular hypotonia	0	FLII	2314	819	Smith-Magenis syndrome		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	FMR1	2332	908	Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth	C0796094	ORPHA	81	30
HP:0001252	HP:0001252	Muscular hypotonia	0	FMR1	2332	261483	Xq27.3q28 duplication syndrome		ORPHA	81	30
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXG1	2290	261144	14q12 microdeletion syndrome		ORPHA	116	177
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXRED1	55572	256000	Leigh syndrome	C0023264	OMIM	7	61
HP:0001252	HP:0001252	Muscular hypotonia	0	FOXRED1	55572	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	61
HP:0001252	HP:0001252	Muscular hypotonia	0	FUCA1	2517	349	Neuroaxonal dystrophy renal tubular acidosis		ORPHA	32	43
HP:0001252	HP:0001252	Muscular hypotonia	0	GAA	2548	232300	Glycogen storage disease, type II	C0017921	OMIM	510	407
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRA1	2554	33069	Dravet syndrome		ORPHA	35	134
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRD	2563	1606	1p36 deletion syndrome		ORPHA	4	10
HP:0001252	HP:0001252	Muscular hypotonia	0	GABRG2	2566	33069	Dravet syndrome		ORPHA	33	139
HP:0001252	HP:0001252	Muscular hypotonia	0	GALC	2581	245200	Galactosylceramide beta-galactosidase deficiency	C0023521	OMIM	230	160
HP:0001252	HP:0001252	Muscular hypotonia	0	GALE	2582	230350	UDPglucose-4-epimerase deficiency	C0751161	OMIM	25	52
HP:0001252	HP:0001252	Muscular hypotonia	0	GATA1	2623	190685	Complete trisomy 21 syndrome	C0013080	OMIM	15	29
HP:0001252	HP:0001252	Muscular hypotonia	0	GBA	2629	85212	Fetal Gaucher disease		ORPHA	460	108
HP:0001252	HP:0001252	Muscular hypotonia	0	GBE1	2632	232500	Glycogen storage disease, type IV	C0017923	OMIM	70	86
HP:0001252	HP:0001252	Muscular hypotonia	0	GCDH	2639	231670	Glutaric aciduria, type 1	C0268595	OMIM	205	115
HP:0001252	HP:0001252	Muscular hypotonia	0	GCDH	2639	25	Glutaryl-CoA dehydrogenase deficiency		ORPHA	205	115
HP:0001252	HP:0001252	Muscular hypotonia	0	GCSH	2653	605899	Non-ketotic hyperglycinemia	C0751748	OMIM	2	5
HP:0001252	HP:0001252	Muscular hypotonia	0	GDF6	392255	65	Leber congenital amaurosis		ORPHA	18	64
HP:0001252	HP:0001252	Muscular hypotonia	0	GFPT1	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	C1837091	OMIM	36	128
HP:0001252	HP:0001252	Muscular hypotonia	0	GLDC	2731	605899	Non-ketotic hyperglycinemia	C0751748	OMIM	415	166
HP:0001252	HP:0001252	Muscular hypotonia	0	GLUL	2752	610015	Glutamine deficiency, congenital	C1864910	OMIM	3	98
HP:0001252	HP:0001252	Muscular hypotonia	0	GM2A	2760	272750	Tay-Sachs disease, variant AB	C0268275	OMIM	9	69
HP:0001252	HP:0001252	Muscular hypotonia	0	GMPPB	29925	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	29	34
HP:0001252	HP:0001252	Muscular hypotonia	0	GMPPB	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	C3809221	OMIM	29	34
HP:0001252	HP:0001252	Muscular hypotonia	0	GMPPB	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	C3714932	OMIM	29	34
HP:0001252	HP:0001252	Muscular hypotonia	0	GNPAT	8443	222765	Rhizomelic chondrodysplasia punctata type 2	C1857242	OMIM	15	58
HP:0001252	HP:0001252	Muscular hypotonia	0	GORAB	92344	2078	EEM syndrome	C1857041	ORPHA	13	52
HP:0001252	HP:0001252	Muscular hypotonia	0	GP1BB	2812	567	22q11.2 deletion syndrome		ORPHA	53	8
HP:0001252	HP:0001252	Muscular hypotonia	0	GPC3	2719	312870	Simpson-Golabi-Behmel syndrome	C0796154	OMIM	69	73
HP:0001252	HP:0001252	Muscular hypotonia	0	GPC4	2239	312870	Simpson-Golabi-Behmel syndrome	C0796154	OMIM	4
HP:0001252	HP:0001252	Muscular hypotonia	0	GPX4	2879	250220	Spondylometaphyseal dysplasia Sedaghatian type	C1855229	OMIM	4	3
HP:0001252	HP:0001252	Muscular hypotonia	0	GRID2	2895	616204	Spinocerebellar ataxia, autosomal recessive 18	C4015505	OMIM	14	18
HP:0001252	HP:0001252	Muscular hypotonia	0	GRIN2B	2904	616139	Epileptic encephalopathy, early infantile, 27	C4015316	OMIM	49	274
HP:0001252	HP:0001252	Muscular hypotonia	0	GRM1	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	C3553816	OMIM	16	8
HP:0001252	HP:0001252	Muscular hypotonia	0	GTF2I	2969	904	Blepharophimosis nasal groove growth retardation		ORPHA	1	1
HP:0001252	HP:0001252	Muscular hypotonia	0	GTF2IRD1	9569	904	Blepharophimosis nasal groove growth retardation		ORPHA	6	1
HP:0001252	HP:0001252	Muscular hypotonia	0	GTPBP3	84705	616198	Combined oxidative phosphorylation deficiency 23	C4015447	OMIM	14	30
HP:0001252	HP:0001252	Muscular hypotonia	0	GUCY2D	3000	65	Leber congenital amaurosis		ORPHA	217	124
HP:0001252	HP:0001252	Muscular hypotonia	0	GUSB	2990	584	Al Gazali Donnai Mueller syndrome		ORPHA	63	54
HP:0001252	HP:0001252	Muscular hypotonia	0	HACD1	9200	2020	Congenital fiber-type disproportion myopathy		ORPHA	1	2
HP:0001252	HP:0001252	Muscular hypotonia	0	HADH	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	C1291230	OMIM	26	41
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHA	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	CN074230	OMIM	68	99
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHA	3030	609015	Mitochondrial trifunctional protein deficiency	C0342786	OMIM	68	99
HP:0001252	HP:0001252	Muscular hypotonia	0	HADHB	3032	609015	Mitochondrial trifunctional protein deficiency	C0342786	OMIM	57	60
HP:0001252	HP:0001252	Muscular hypotonia	0	HBA1	3039	98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		ORPHA	199	200
HP:0001252	HP:0001252	Muscular hypotonia	0	HBA2	3040	98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		ORPHA	280	88
HP:0001252	HP:0001252	Muscular hypotonia	0	HCFC1	3054	309541	Mental retardation 3, X-linked	C0796208	OMIM	15	100
HP:0001252	HP:0001252	Muscular hypotonia	0	HDAC4	9759	1001	Branchial arch defects		ORPHA	14	33
HP:0001252	HP:0001252	Muscular hypotonia	0	HEPACAM	220296	613926	Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation	C3151356	OMIM	23	82
HP:0001252	HP:0001252	Muscular hypotonia	0	HERC2	8924	615516	Mental retardation, autosomal recessive 38	C3809753	OMIM	4	38
HP:0001252	HP:0001252	Muscular hypotonia	0	HESX1	8820	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		ORPHA	26	21
HP:0001252	HP:0001252	Muscular hypotonia	0	HEXA	3073	272800	Tay-Sachs disease	C0039373	OMIM	182	152
HP:0001252	HP:0001252	Muscular hypotonia	0	HIBCH	26275	250620	Beta-hydroxyisobutyryl-CoA deacylase deficiency	C0342738	OMIM	14	32
HP:0001252	HP:0001252	Muscular hypotonia	0	HIBCH	26275	88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		ORPHA	14	32
HP:0001252	HP:0001252	Muscular hypotonia	0	HIRA	7290	567	22q11.2 deletion syndrome		ORPHA	2	3
HP:0001252	HP:0001252	Muscular hypotonia	0	HLCS	3141	79242	Holocarboxylase synthetase deficiency		ORPHA	46	148
HP:0001252	HP:0001252	Muscular hypotonia	0	HLCS	3141	253270	Holocarboxylase synthetase deficiency	C0268581	OMIM	46	148
HP:0001252	HP:0001252	Muscular hypotonia	0	HNRNPK	3190	616580	AU-KLINE SYNDROME	C4225274	OMIM	5	8
HP:0001252	HP:0001252	Muscular hypotonia	0	HPD	3242	2118	Hawkinsinuria		ORPHA	9	23
HP:0001252	HP:0001252	Muscular hypotonia	0	HPRT1	3251	300322	Lesch-Nyhan syndrome	C0023374	OMIM	424	76
HP:0001252	HP:0001252	Muscular hypotonia	0	HRAS	3265	2612	Heart defect, tongue hamartoma and polysyndactyly		ORPHA	28	113
HP:0001252	HP:0001252	Muscular hypotonia	0	HSD17B10	3028	300438	2-methyl-3-hydroxybutyric aciduria	C1845517	OMIM	13	19
HP:0001252	HP:0001252	Muscular hypotonia	0	HSPD1	3329	612233	Leukodystrophy, hypomyelinating, 4	C2677109	OMIM	5	46
HP:0001252	HP:0001252	Muscular hypotonia	0	HYLS1	219844	475	Acquired hypoprothrombinemia		ORPHA	2	31
HP:0001252	HP:0001252	Muscular hypotonia	0	IDH2	3418	613657	D-2-hydroxyglutaric aciduria 2	C3150909	OMIM	6	29
HP:0001252	HP:0001252	Muscular hypotonia	0	IDUA	3425	93473	Hurler syndrome		ORPHA	249	115
HP:0001252	HP:0001252	Muscular hypotonia	0	IFIH1	64135	182250	Singleton-Merten syndrome 1	C4225427	OMIM	20	28
HP:0001252	HP:0001252	Muscular hypotonia	0	IFT140	9742	65	Leber congenital amaurosis		ORPHA	49	148
HP:0001252	HP:0001252	Muscular hypotonia	0	IGF2	3481	616489	Growth restriction, severe, with distinctive facies	C4225307	OMIM	6	9
HP:0001252	HP:0001252	Muscular hypotonia	0	IKBKAP	8518	1764	Familial dysautonomia		ORPHA	4
HP:0001252	HP:0001252	Muscular hypotonia	0	IKBKAP	8518	223900	Familial dysautonomia	C0013364	OMIM	4
HP:0001252	HP:0001252	Muscular hypotonia	0	IMPDH1	3614	65	Leber congenital amaurosis		ORPHA	20	52
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E	56623	475	Acquired hypoprothrombinemia		ORPHA	42	111
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E	56623	1454	Common atrioventricular canal	C0221215	ORPHA	42	111
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E	56623	213300	Joubert syndrome 1	CN119531	OMIM	42	111
HP:0001252	HP:0001252	Muscular hypotonia	0	INPP5E	56623	220493	Joubert syndrome with ocular defect		ORPHA	42	111
HP:0001252	HP:0001252	Muscular hypotonia	0	INPPL1	3636	2746	Hoyeraal syndrome		ORPHA	28	18
HP:0001252	HP:0001252	Muscular hypotonia	0	INPPL1	3636	258480	Opsismodysplasia	C0432219	OMIM	28	18
HP:0001252	HP:0001252	Muscular hypotonia	0	IQCB1	9657	65	Leber congenital amaurosis		ORPHA	38	61
HP:0001252	HP:0001252	Muscular hypotonia	0	ISPD	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	C3553330	OMIM	44	211
HP:0001252	HP:0001252	Muscular hypotonia	0	ITGA7	3679	2020	Congenital fiber-type disproportion myopathy		ORPHA	7	127
HP:0001252	HP:0001252	Muscular hypotonia	0	ITGB6	3694	2850	Alopecia-intellectual disability syndrome		ORPHA	6	8
HP:0001252	HP:0001252	Muscular hypotonia	0	ITPR1	3708	1065	Camptodactyly joint contractures and facial skeletal dysplasia		ORPHA	68	177
HP:0001252	HP:0001252	Muscular hypotonia	0	IYD	389434	95716	Familial thyroid dyshormonogenesis		ORPHA	4	130
HP:0001252	HP:0001252	Muscular hypotonia	0	JMJD1C	221037	567	22q11.2 deletion syndrome		ORPHA	26	2
HP:0001252	HP:0001252	Muscular hypotonia	0	KANK1	23189	612900	Cerebral palsy, spastic quadriplegic, 2	C2752061	OMIM	10	26
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6A	7994	616268	Mental retardation, autosomal dominant 32	C4225396	OMIM	15	34
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6B	23522	606170	Genitopatellar syndrome	C1853566	OMIM	54	141
HP:0001252	HP:0001252	Muscular hypotonia	0	KAT6B	23522	648	Noonan syndrome		ORPHA	54	141
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNAB2	8514	1606	1p36 deletion syndrome		ORPHA	3	1
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNB1	3745	616056	Epileptic encephalopathy, early infantile, 26	C4015119	OMIM	11	65
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNC3	3748	605259	Spinocerebellar ataxia 13	C1854488	OMIM	8	17
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNE5	23630	86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		ORPHA	4	5
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNH1	3756	611816	Temple-Baraitser syndrome	C2678486	OMIM	12	13
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNH1	3756	135500	Zimmermann-Laband syndrome 1	CN032818	OMIM	12	13
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNJ10	3766	612780	SeSAME syndrome	C2748572	OMIM	27	121
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNJ13	3769	65	Leber congenital amaurosis		ORPHA	10	42
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNK9	51305	612292	Birk Barel mental retardation dysmorphism syndrome	C2676770	OMIM	2	4
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ2	3785	306	Camptodactyly arthropathy coxa vara pericarditis syndrome	C1859690	ORPHA	229	528
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ2	3785	613720	Early infantile epileptic encephalopathy 7	C3150986	OMIM	229	528
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNQ3	3786	306	Camptodactyly arthropathy coxa vara pericarditis syndrome	C1859690	ORPHA	17	302
HP:0001252	HP:0001252	Muscular hypotonia	0	KCNT1	57582	614959	Early infantile epileptic encephalopathy 14	C3554195	OMIM	31	321
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A	7403	2322	Kabuki syndrome		ORPHA	49	53
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A	7403	147920	Kabuki syndrome 1	CN030661	OMIM	49	53
HP:0001252	HP:0001252	Muscular hypotonia	0	KDM6A	7403	300867	Kabuki syndrome 2	C3275495	OMIM	49	53
HP:0001252	HP:0001252	Muscular hypotonia	0	KIAA0556	23247	475	Acquired hypoprothrombinemia		ORPHA	2	1
HP:0001252	HP:0001252	Muscular hypotonia	0	KIAA0586	9786	475	Acquired hypoprothrombinemia		ORPHA	28	24
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF1A	547	201300	Hereditary sensory and autonomic neuropathy type IIA	C2752089	OMIM	33	276
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF1BP	26128	609460	Goldberg-Shprintzen megacolon syndrome	C1836123	OMIM	10	28
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF1BP	26128	66629	Goldberg-Shprintzen megacolon syndrome		ORPHA	10	28
HP:0001252	HP:0001252	Muscular hypotonia	0	KIF22	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	C1863732	OMIM	4	14
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2A	4297	605130	Wiedemann-Steiner syndrome	C1854630	OMIM	41	91
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2D	8085	2322	Kabuki syndrome		ORPHA	584	660
HP:0001252	HP:0001252	Muscular hypotonia	0	KMT2D	8085	147920	Kabuki syndrome 1	CN030661	OMIM	584	660
HP:0001252	HP:0001252	Muscular hypotonia	0	KPTN	11133	615637	Mental retardation, autosomal recessive 41	C3810225	OMIM	3	13
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS	3845	1340	Chromosome 4, monosomy 4q	C0265404	ORPHA	40	196
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS	3845	2612	Heart defect, tongue hamartoma and polysyndactyly		ORPHA	40	196
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS	3845	144	Mac Dermot Winter syndrome	C0796024	ORPHA	40	196
HP:0001252	HP:0001252	Muscular hypotonia	0	KRAS	3845	648	Noonan syndrome		ORPHA	40	196
HP:0001252	HP:0001252	Muscular hypotonia	0	L2HGDH	79944	79314	L-2-hydroxyglutaric aciduria		ORPHA	75	34
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMA2	3908	607855	Merosin deficient congenital muscular dystrophy	C1263858	OMIM	251	411
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMB1	3912	615191	Lissencephaly 5	C3554657	OMIM	5	71
HP:0001252	HP:0001252	Muscular hypotonia	0	LAMB2	3913	609049	Pierson syndrome	C1836876	OMIM	98	92
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1	9215	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	22	136
HP:0001252	HP:0001252	Muscular hypotonia	0	LARGE1	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	C1837229	OMIM	22	136
HP:0001252	HP:0001252	Muscular hypotonia	0	LARS	51520	615438	Infantile liver failure syndrome 1	C3809522	OMIM	4	70
HP:0001252	HP:0001252	Muscular hypotonia	0	LAS1L	81887	309585	Wilson-Turner X-linked mental retardation syndrome	C1839736	OMIM	3	8
HP:0001252	HP:0001252	Muscular hypotonia	0	LCA5	167691	65	Leber congenital amaurosis		ORPHA	46	70
HP:0001252	HP:0001252	Muscular hypotonia	0	LETM1	3954	280	Halal Setton Wang syndrome		ORPHA	3	2
HP:0001252	HP:0001252	Muscular hypotonia	0	LHX3	8022	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		ORPHA	16	51
HP:0001252	HP:0001252	Muscular hypotonia	0	LHX4	89884	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		ORPHA	22	43
HP:0001252	HP:0001252	Muscular hypotonia	0	LIAS	11019	614462	Pyruvate dehydrogenase lipoic acid synthetase deficiency	C3280887	OMIM	5	31
HP:0001252	HP:0001252	Muscular hypotonia	0	LIFR	3977	601559	Stuve-Wiedemann syndrome	C0796176	OMIM	31	144
HP:0001252	HP:0001252	Muscular hypotonia	0	LIMK1	3984	904	Blepharophimosis nasal groove growth retardation		ORPHA	6
HP:0001252	HP:0001252	Muscular hypotonia	0	LINS1	55180	614340	Mental retardation, autosomal recessive 27	C3280538	OMIM	5	25
HP:0001252	HP:0001252	Muscular hypotonia	0	LMBRD1	55788	79284	Methylmalonic acidemia with homocystinuria type cblF		ORPHA	9	46
HP:0001252	HP:0001252	Muscular hypotonia	0	LMBRD1	55788	277380	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE	C1848578	OMIM	9	46
HP:0001252	HP:0001252	Muscular hypotonia	0	LMNA	4000	157973	Congenital muscular dystrophy due to LMNA mutation		ORPHA	495	645
HP:0001252	HP:0001252	Muscular hypotonia	0	LONP1	9361	1458	CODAS syndrome		ORPHA	15	8
HP:0001252	HP:0001252	Muscular hypotonia	0	LONP1	9361	600373	CODAS syndrome	C1838180	OMIM	15	8
HP:0001252	HP:0001252	Muscular hypotonia	0	LRAT	9227	65	Leber congenital amaurosis		ORPHA	20	62
HP:0001252	HP:0001252	Muscular hypotonia	0	LRP5	4041	259770	Osteoporosis with pseudoglioma	C0432252	OMIM	169	125
HP:0001252	HP:0001252	Muscular hypotonia	0	LRPPRC	10128	220111	Leigh syndrome, French Canadian type	C1857355	OMIM	15	191
HP:0001252	HP:0001252	Muscular hypotonia	0	LTC4S	4056	614037	Leukotriene c4 synthase deficiency	C1855503	OMIM	6	1
HP:0001252	HP:0001252	Muscular hypotonia	0	LYRM7	90624	615838	Mitochondrial complex III deficiency, nuclear type 8	C4014440	OMIM	7	10
HP:0001252	HP:0001252	Muscular hypotonia	0	LZTR1	8216	648	Noonan syndrome		ORPHA	60	43
HP:0001252	HP:0001252	Muscular hypotonia	0	MAG	4099	616680	Spastic paraplegia 75, autosomal recessive	C4225250	OMIM	3	4
HP:0001252	HP:0001252	Muscular hypotonia	0	MAN2B1	4125	248500	Deficiency of alpha-mannosidase	C0024748	OMIM	140	136
HP:0001252	HP:0001252	Muscular hypotonia	0	MANBA	4126	248510	Beta-D-mannosidosis	C0342849	OMIM	18	55
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K1	5604	615279	Cardiofaciocutaneous syndrome 3	C3809006	OMIM	19	134
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K1	5604	1340	Chromosome 4, monosomy 4q	C0265404	ORPHA	19	134
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K2	5605	615280	Cardiofaciocutaneous syndrome 4	C3809007	OMIM	33	178
HP:0001252	HP:0001252	Muscular hypotonia	0	MAP2K2	5605	1340	Chromosome 4, monosomy 4q	C0265404	ORPHA	33	178
HP:0001252	HP:0001252	Muscular hypotonia	0	MAPRE2	10982	616734	Skin creases, congenital symmetric circumferential, 2	C4225225	OMIM	4	4
HP:0001252	HP:0001252	Muscular hypotonia	0	MARS2	92935	616430	Combined oxidative phosphorylation deficiency 25	C4225329	OMIM	5	25
HP:0001252	HP:0001252	Muscular hypotonia	0	MBD5	55777	228402	2q23.1 microdeletion syndrome		ORPHA	79	252
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC1	56922	210200	3 Methylcrotonyl-CoA carboxylase 1 deficiency	CN028786	OMIM	104	81
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC1	56922	6	Intellectual disability (mild)	CN240508	ORPHA	104	81
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC2	64087	210210	3-methylcrotonyl CoA carboxylase 2 deficiency	C1859499	OMIM	113	77
HP:0001252	HP:0001252	Muscular hypotonia	0	MCCC2	64087	6	Intellectual disability (mild)	CN240508	ORPHA	113	77
HP:0001252	HP:0001252	Muscular hypotonia	0	MCOLN1	57192	578	Akesson syndrome		ORPHA	32	78
HP:0001252	HP:0001252	Muscular hypotonia	0	MCOLN1	57192	252650	Ganglioside sialidase deficiency	C0238286	OMIM	32	78
HP:0001252	HP:0001252	Muscular hypotonia	0	MED12	9968	776	X-linked intellectual disability with marfanoid habitus		ORPHA	20	228
HP:0001252	HP:0001252	Muscular hypotonia	0	MED25	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	C4225323	OMIM	4	43
HP:0001252	HP:0001252	Muscular hypotonia	0	MEF2C	4208	228384	5q14.3 microdeletion syndrome		ORPHA	68	132
HP:0001252	HP:0001252	Muscular hypotonia	0	MEF2C	4208	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	C3150700	OMIM	68	132
HP:0001252	HP:0001252	Muscular hypotonia	0	MKS1	54903	475	Acquired hypoprothrombinemia		ORPHA	48	127
HP:0001252	HP:0001252	Muscular hypotonia	0	MKS1	54903	220493	Joubert syndrome with ocular defect		ORPHA	48	127
HP:0001252	HP:0001252	Muscular hypotonia	0	MLH1	4292	144	Mac Dermot Winter syndrome	C0796024	ORPHA	1116	1819
HP:0001252	HP:0001252	Muscular hypotonia	0	MLH3	27030	144	Mac Dermot Winter syndrome	C0796024	ORPHA	27	131
HP:0001252	HP:0001252	Muscular hypotonia	0	MLXIPL	51085	194050	Williams syndrome	C0175702	OMIM	6	1
HP:0001252	HP:0001252	Muscular hypotonia	0	MLYCD	23417	248360	Deficiency of malonyl-CoA decarboxylase	C0342793	OMIM	37	80
HP:0001252	HP:0001252	Muscular hypotonia	0	MMAA	166785	251100	Methylmalonic aciduria cblA type	C1855109	OMIM	52	113
HP:0001252	HP:0001252	Muscular hypotonia	0	MMAB	326625	251110	Methylmalonic aciduria cblB type	C1855102	OMIM	41	127
HP:0001252	HP:0001252	Muscular hypotonia	0	MMACHC	25974	277400	Methylmalonic acidemia with homocystinuria	C1848561	OMIM	90	101
HP:0001252	HP:0001252	Muscular hypotonia	0	MMADHC	27249	277410	Methylmalonic acidemia with homocystinuria cblD	C1848552	OMIM	13	50
HP:0001252	HP:0001252	Muscular hypotonia	0	MOGS	7841	606056	Congenital disorder of glycosylation type 2B	C1853736	OMIM	5	37
HP:0001252	HP:0001252	Muscular hypotonia	0	MORC2	22880	616688	Charcot-Marie-Tooth disease, axonal, type 2z	C4225243	OMIM	9	8
HP:0001252	HP:0001252	Muscular hypotonia	0	MPC1	51660	614741	Mitochondrial pyruvate carrier deficiency	C3553607	OMIM	2	6
HP:0001252	HP:0001252	Muscular hypotonia	0	MPDU1	9526	609180	Congenital disorder of glycosylation type 1F	C1836669	OMIM	5	32
HP:0001252	HP:0001252	Muscular hypotonia	0	MPDU1	9526	79323	MPDU1-CDG		ORPHA	5	32
HP:0001252	HP:0001252	Muscular hypotonia	0	MPI	4351	602579	Congenital disorder of glycosylation type 1B	C1865145	OMIM	19	51
HP:0001252	HP:0001252	Muscular hypotonia	0	MPV17	4358	256810	Navajo neurohepatopathy	C1850406	OMIM	40	56
HP:0001252	HP:0001252	Muscular hypotonia	0	MPZ	4359	145900	Dejerine-Sottas disease	C0011195	OMIM	237	134
HP:0001252	HP:0001252	Muscular hypotonia	0	MSH2	4436	144	Mac Dermot Winter syndrome	C0796024	ORPHA	1138	2162
HP:0001252	HP:0001252	Muscular hypotonia	0	MSH6	2956	144	Mac Dermot Winter syndrome	C0796024	ORPHA	462	2232
HP:0001252	HP:0001252	Muscular hypotonia	0	MTM1	4534	596	Albright like syndrome		ORPHA	289	185
HP:0001252	HP:0001252	Muscular hypotonia	0	MTO1	25821	614702	Combined oxidative phosphorylation deficiency 10	C3553529	OMIM	13	39
HP:0001252	HP:0001252	Muscular hypotonia	0	MTR	4548	250940	METHYLCOBALAMIN DEFICIENCY, cblG TYPE	C1855128	OMIM	41	217
HP:0001252	HP:0001252	Muscular hypotonia	0	MTRR	4552	2169	Epilepsy with myoclono-astatic crisis		ORPHA	35	88
HP:0001252	HP:0001252	Muscular hypotonia	0	MTRR	4552	236270	Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type	C1856057	OMIM	35	88
HP:0001252	HP:0001252	Muscular hypotonia	0	MTTP	4547	14	Bilateral squint	CN228276	ORPHA	72	81
HP:0001252	HP:0001252	Muscular hypotonia	0	MUSK	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	C4225368	OMIM	17	72
HP:0001252	HP:0001252	Muscular hypotonia	0	MUT	4594	251000	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	C1855114	OMIM	341	193
HP:0001252	HP:0001252	Muscular hypotonia	0	MUT	4594	79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-		ORPHA	341	193
HP:0001252	HP:0001252	Muscular hypotonia	0	MUT	4594	289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0		ORPHA	341	193
HP:0001252	HP:0001252	Muscular hypotonia	0	MVK	4598	29	CHARGE association	C0265354	ORPHA	170	150
HP:0001252	HP:0001252	Muscular hypotonia	0	MVK	4598	610377	Mevalonic aciduria	C1959626	OMIM	170	150
HP:0001252	HP:0001252	Muscular hypotonia	0	MYL2	4633	2020	Congenital fiber-type disproportion myopathy		ORPHA	59	131
HP:0001252	HP:0001252	Muscular hypotonia	0	MYO5A	4644	214450	Griscelli syndrome type 1	C1859194	OMIM	4	35
HP:0001252	HP:0001252	Muscular hypotonia	0	NAA10	8260	309800	Lenz microphthalmia syndrome	C0796016	OMIM	9	23
HP:0001252	HP:0001252	Muscular hypotonia	0	NADK2	133686	616034	2,4-Dienoyl-CoA reductase deficiency	C1857252	OMIM	2	14
HP:0001252	HP:0001252	Muscular hypotonia	0	NAGA	4668	79279	Alpha-N-acetylgalactosaminidase deficiency type 1		ORPHA	7	47
HP:0001252	HP:0001252	Muscular hypotonia	0	NAGA	4668	609241	Schindler disease, type 1	C1836544	OMIM	7	47
HP:0001252	HP:0001252	Muscular hypotonia	0	NALCN	259232	616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	C4225398	OMIM	31	48
HP:0001252	HP:0001252	Muscular hypotonia	0	NANS	54187	610442	Spondyloepimetaphyseal dysplasia Genevieve type	C1864872	OMIM	12	8
HP:0001252	HP:0001252	Muscular hypotonia	0	NARS2	79731	616239	Combined oxidative phosphorylation deficiency 24	C4015643	OMIM	6	34
HP:0001252	HP:0001252	Muscular hypotonia	0	NBAS	51594	614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	C3541319	OMIM	28	25
HP:0001252	HP:0001252	Muscular hypotonia	0	NDST1	3340	616116	Mental retardation, autosomal recessive 46	C4015283	OMIM	6	27
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA1	4694	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	7
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA10	4705	256000	Leigh syndrome	C0023264	OMIM	5	91
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA11	126328	252010	Mitochondrial complex I deficiency	C1838979	OMIM	1	32
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA12	55967	256000	Leigh syndrome	C0023264	OMIM	1	7
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA2	4695	256000	Leigh syndrome	C0023264	OMIM	4	19
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFA9	4704	256000	Leigh syndrome	C0023264	OMIM	1	27
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF1	51103	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	40
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF2	91942	256000	Leigh syndrome	C0023264	OMIM	8	26
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF2	91942	252010	Mitochondrial complex I deficiency	C1838979	OMIM	8	26
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF3	25915	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	31
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF4	29078	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	50
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF5	79133	252010	Mitochondrial complex I deficiency	C1838979	OMIM	10	34
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFAF6	137682	256000	Leigh syndrome	C0023264	OMIM	8	39
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFB3	4709	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	9
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFB9	4715	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	16
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS1	4719	252010	Mitochondrial complex I deficiency	C1838979	OMIM	19	81
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS2	4720	252010	Mitochondrial complex I deficiency	C1838979	OMIM	22	65
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS3	4722	256000	Leigh syndrome	C0023264	OMIM	3	22
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS3	4722	252010	Mitochondrial complex I deficiency	C1838979	OMIM	3	22
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS4	4724	256000	Leigh syndrome	C0023264	OMIM	16	27
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS4	4724	252010	Mitochondrial complex I deficiency	C1838979	OMIM	16	27
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS6	4726	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	21
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS7	374291	256000	Leigh syndrome	C0023264	OMIM	8	38
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFS8	4728	256000	Leigh syndrome	C0023264	OMIM	12	42
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFV1	4723	252010	Mitochondrial complex I deficiency	C1838979	OMIM	32	74
HP:0001252	HP:0001252	Muscular hypotonia	0	NDUFV2	4729	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	27
HP:0001252	HP:0001252	Muscular hypotonia	0	NELFA	7469	280	Halal Setton Wang syndrome		ORPHA	4
HP:0001252	HP:0001252	Muscular hypotonia	0	NEU1	4758	812	Sialidosis type 1		ORPHA	59	43
HP:0001252	HP:0001252	Muscular hypotonia	0	NEU1	4758	256550	Sialidosis, type II	C0268226	OMIM	59	43
HP:0001252	HP:0001252	Muscular hypotonia	0	NFIX	4784	602535	Marshall-Smith syndrome	C0265211	OMIM	51	40
HP:0001252	HP:0001252	Muscular hypotonia	0	NGLY1	55768	615273	Congenital disorder of deglycosylation	C3808991	OMIM	22	32
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-1	7080	610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	C1970269	OMIM	124	51
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-5	1482	95713	Athyreosis		ORPHA	103	90
HP:0001252	HP:0001252	Muscular hypotonia	0	NKX2-5	1482	95712	Thyroid ectopia		ORPHA	103	90
HP:0001252	HP:0001252	Muscular hypotonia	0	NMNAT1	64802	65	Leber congenital amaurosis		ORPHA	68	15
HP:0001252	HP:0001252	Muscular hypotonia	0	NOTCH3	4854	130720	Lehman syndrome	C1851710	OMIM	327	144
HP:0001252	HP:0001252	Muscular hypotonia	0	NPC1	4864	257220	Niemann-Pick disease type C1	C3179455	OMIM	445	258
HP:0001252	HP:0001252	Muscular hypotonia	0	NPC2	10577	607625	Niemann-Pick disease type C2	C1843366	OMIM	27	33
HP:0001252	HP:0001252	Muscular hypotonia	0	NPHP1	4867	609583	Joubert syndrome 4	C1846790	OMIM	69	85
HP:0001252	HP:0001252	Muscular hypotonia	0	NPHP1	4867	220497	Joubert syndrome with renal defect		ORPHA	69	85
HP:0001252	HP:0001252	Muscular hypotonia	0	NRAS	4893	2612	Heart defect, tongue hamartoma and polysyndactyly		ORPHA	9	102
HP:0001252	HP:0001252	Muscular hypotonia	0	NRAS	4893	648	Noonan syndrome		ORPHA	9	102
HP:0001252	HP:0001252	Muscular hypotonia	0	NRXN1	9378	614325	Pitt-Hopkins-like syndrome 2	C3280479	OMIM	296	470
HP:0001252	HP:0001252	Muscular hypotonia	0	NSD1	64324	821	Bardet-Biedl syndrome 2	C2936863	ORPHA	468	544
HP:0001252	HP:0001252	Muscular hypotonia	0	NSD2	7468	280	Halal Setton Wang syndrome		ORPHA	7	118
HP:0001252	HP:0001252	Muscular hypotonia	0	NUBPL	80224	252010	Mitochondrial complex I deficiency	C1838979	OMIM	9	89
HP:0001252	HP:0001252	Muscular hypotonia	0	OFD1	8481	300209	Simpson-Golabi-Behmel syndrome, type 2	C1846175	OMIM	155	201
HP:0001252	HP:0001252	Muscular hypotonia	0	OGDH	4967	203740	Alpha-ketoglutarate dehydrogenase deficiency	C2752074	OMIM
HP:0001252	HP:0001252	Muscular hypotonia	0	OPHN1	4983	300486	Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance	C1845366	OMIM	34	55
HP:0001252	HP:0001252	Muscular hypotonia	0	OPHN1	4983	137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		ORPHA	34	55
HP:0001252	HP:0001252	Muscular hypotonia	0	ORAI1	84876	612782	Immune dysfunction with T-cell inactivation due to calcium entry defect 1	C2748568	OMIM	14	19
HP:0001252	HP:0001252	Muscular hypotonia	0	OTX2	5015	610125	Microphthalmia syndromic 5	C1864690	OMIM	65	41
HP:0001252	HP:0001252	Muscular hypotonia	0	P4HB	5034	2050	Ectodermal dysplasia Margarita type		ORPHA	10	2
HP:0001252	HP:0001252	Muscular hypotonia	0	PAFAH1B1	5048	217385	17p13.3 microduplication syndrome		ORPHA	165	231
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX6	5080	1065	Camptodactyly joint contractures and facial skeletal dysplasia		ORPHA	474	194
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8	7849	95713	Athyreosis		ORPHA	38	63
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8	7849	218700	Thyroid agenesis	C1563716	OMIM	38	63
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8	7849	95712	Thyroid ectopia		ORPHA	38	63
HP:0001252	HP:0001252	Muscular hypotonia	0	PAX8	7849	95720	Thyroid hypoplasia		ORPHA	38	63
HP:0001252	HP:0001252	Muscular hypotonia	0	PC	5091	266150	Pyruvate carboxylase deficiency	C0034341	OMIM	39	118
HP:0001252	HP:0001252	Muscular hypotonia	0	PCBD1	5092	264070	Hyperphenylalaninemia, BH4-deficient, D	C1849700	OMIM	11	24
HP:0001252	HP:0001252	Muscular hypotonia	0	PCDH19	57526	33069	Dravet syndrome		ORPHA	154	225
HP:0001252	HP:0001252	Muscular hypotonia	0	PDHA1	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	C1839414	OMIM	168	88
HP:0001252	HP:0001252	Muscular hypotonia	0	PDP1	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	C1837429	OMIM	2	52
HP:0001252	HP:0001252	Muscular hypotonia	0	PET100	100131801	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	6
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1	5189	44	Haim-Munk syndrome	C1855627	ORPHA	123	169
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1	5189	772	Infantile Refsum disease		ORPHA	123	169
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX1	5189	214100	Zellweger syndrome	C0043459	OMIM	123	169
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX10	5192	44	Haim-Munk syndrome	C1855627	ORPHA	30	75
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX10	5192	772	Infantile Refsum disease		ORPHA	30	75
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX11B	8799	44	Haim-Munk syndrome	C1855627	ORPHA	5	4
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX11B	8799	772	Infantile Refsum disease		ORPHA	5	4
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12	5193	44	Haim-Munk syndrome	C1855627	ORPHA	34	65
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12	5193	772	Infantile Refsum disease		ORPHA	34	65
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX12	5193	266510	Infantile Refsum's disease	C0282527	OMIM	34	65
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX13	5194	44	Haim-Munk syndrome	C1855627	ORPHA	10	66
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX13	5194	772	Infantile Refsum disease		ORPHA	10	66
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX14	5195	44	Haim-Munk syndrome	C1855627	ORPHA	4	46
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX14	5195	772	Infantile Refsum disease		ORPHA	4	46
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX16	9409	44	Haim-Munk syndrome	C1855627	ORPHA	12	59
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX16	9409	772	Infantile Refsum disease		ORPHA	12	59
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX19	5824	44	Haim-Munk syndrome	C1855627	ORPHA	3	62
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX19	5824	772	Infantile Refsum disease		ORPHA	3	62
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX2	5828	44	Haim-Munk syndrome	C1855627	ORPHA	18	82
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX2	5828	772	Infantile Refsum disease		ORPHA	18	82
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX26	55670	44	Haim-Munk syndrome	C1855627	ORPHA	23	106
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX26	55670	772	Infantile Refsum disease		ORPHA	23	106
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX3	8504	44	Haim-Munk syndrome	C1855627	ORPHA	7	47
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX3	8504	772	Infantile Refsum disease		ORPHA	7	47
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5	5830	44	Haim-Munk syndrome	C1855627	ORPHA	14	99
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5	5830	772	Infantile Refsum disease		ORPHA	14	99
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX5	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	C1859228	OMIM	14	99
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX6	5190	44	Haim-Munk syndrome	C1855627	ORPHA	104	98
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX6	5190	772	Infantile Refsum disease		ORPHA	104	98
HP:0001252	HP:0001252	Muscular hypotonia	0	PEX7	5191	773	Refsum disease		ORPHA	52	72
HP:0001252	HP:0001252	Muscular hypotonia	0	PGAP2	27315	614207	Hyperphosphatasia with mental retardation syndrome 3	C3280153	OMIM	7	8
HP:0001252	HP:0001252	Muscular hypotonia	0	PGAP3	93210	615716	Hyperphosphatasia with mental retardation syndrome 4	C3810354	OMIM	13	20
HP:0001252	HP:0001252	Muscular hypotonia	0	PGM3	5238	615816	Immunodeficiency 23	C4014371	OMIM	12	15
HP:0001252	HP:0001252	Muscular hypotonia	0	PHF6	84295	301900	Borjeson-Forssman-Lehmann syndrome	C0265339	OMIM	27	29
HP:0001252	HP:0001252	Muscular hypotonia	0	PHF6	84295	127	Summitt syndrome	C1802405	ORPHA	27	29
HP:0001252	HP:0001252	Muscular hypotonia	0	PHKB	5257	261750	Glycogen storage disease IXb	C1849812	OMIM	24	101
HP:0001252	HP:0001252	Muscular hypotonia	0	PHKG2	5261	613027	Glycogen storage disease IXc	C2751643	OMIM	31	48
HP:0001252	HP:0001252	Muscular hypotonia	0	PHOX2B	8929	99803	Haddad syndrome	C1859587	ORPHA	71	86
HP:0001252	HP:0001252	Muscular hypotonia	0	PHYH	5264	773	Refsum disease		ORPHA	37	45
HP:0001252	HP:0001252	Muscular hypotonia	0	PIEZO2	63895	248700	Marden-Walker syndrome	C0796033	OMIM	26	77
HP:0001252	HP:0001252	Muscular hypotonia	0	PIGL	9487	280000	Zunich neuroectodermal syndrome	C1848392	OMIM	7	36
HP:0001252	HP:0001252	Muscular hypotonia	0	PIGN	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	C3279775	OMIM	25	37
HP:0001252	HP:0001252	Muscular hypotonia	0	PIGO	84720	614749	Hyperphosphatasia with mental retardation syndrome 2	C3553637	OMIM	9	84
HP:0001252	HP:0001252	Muscular hypotonia	0	PIGT	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	C3809356	OMIM	6	12
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA	5290	144	Mac Dermot Winter syndrome	C0796024	ORPHA	46	162
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA	5290	602501	Megalencephaly cutis marmorata telangiectatica congenita	C1865285	OMIM	46	162
HP:0001252	HP:0001252	Muscular hypotonia	0	PIK3CA	5290	60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		ORPHA	46	162
HP:0001252	HP:0001252	Muscular hypotonia	0	PLA2G6	8398	35069	Infantile neuroaxonal dystrophy		ORPHA	155	133
HP:0001252	HP:0001252	Muscular hypotonia	0	PLA2G6	8398	256600	Infantile neuroaxonal dystrophy	C0270724	OMIM	155	133
HP:0001252	HP:0001252	Muscular hypotonia	0	PLOD1	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	C0268342	OMIM	38	105
HP:0001252	HP:0001252	Muscular hypotonia	0	PLP1	5354	312080	Pelizaeus-Merzbacher disease	C0205711	OMIM	316	60
HP:0001252	HP:0001252	Muscular hypotonia	0	PLXND1	23129	570	Moebius syndrome		ORPHA	6
HP:0001252	HP:0001252	Muscular hypotonia	0	PMM2	5373	212065	Carbohydrate-deficient glycoprotein syndrome type I	C0349653	OMIM	122	150
HP:0001252	HP:0001252	Muscular hypotonia	0	PMP22	5376	145900	Dejerine-Sottas disease	C0011195	OMIM	156	79
HP:0001252	HP:0001252	Muscular hypotonia	0	PMPCA	23203	1170	Autosomal recessive cerebelloparenchymal disorder type 3		ORPHA	7	7
HP:0001252	HP:0001252	Muscular hypotonia	0	PMPCA	23203	213200	Spinocerebellar ataxia, autosomal recessive 2	C1859298	OMIM	7	7
HP:0001252	HP:0001252	Muscular hypotonia	0	PMS1	5378	144	Mac Dermot Winter syndrome	C0796024	ORPHA	11	56
HP:0001252	HP:0001252	Muscular hypotonia	0	PMS2	5395	144	Mac Dermot Winter syndrome	C0796024	ORPHA	284	1121
HP:0001252	HP:0001252	Muscular hypotonia	0	PNKP	11284	613402	Early infantile epileptic encephalopathy 10	C3150667	OMIM	16	244
HP:0001252	HP:0001252	Muscular hypotonia	0	PNP	4860	613179	Purine-nucleoside phosphorylase deficiency	C0268125	OMIM	34	52
HP:0001252	HP:0001252	Muscular hypotonia	0	PNPLA2	57104	610717	Neutral lipid storage disease with myopathy	C1853136	OMIM	46	65
HP:0001252	HP:0001252	Muscular hypotonia	0	PNPLA6	10908	1173	CDG syndrome type 3		ORPHA	50	103
HP:0001252	HP:0001252	Muscular hypotonia	0	PNPLA8	50640	251950	Mitochondrial myopathy with lactic acidosis	C1855033	OMIM	4	3
HP:0001252	HP:0001252	Muscular hypotonia	0	POLG	5428	726	Alpers-Huttenlocher syndrome		ORPHA	277	464
HP:0001252	HP:0001252	Muscular hypotonia	0	POLG	5428	613662	Mitochondrial DNA depletion syndrome 4B, MNGIE type	C3150914	OMIM	277	464
HP:0001252	HP:0001252	Muscular hypotonia	0	POLG	5428	203700	Progressive sclerosing poliodystrophy	C0205710	OMIM	277	464
HP:0001252	HP:0001252	Muscular hypotonia	0	POMGNT1	55624	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	73	180
HP:0001252	HP:0001252	Muscular hypotonia	0	POMGNT2	84892	614830	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	C3553813	OMIM	9	33
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT1	10585	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	83	213
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT2	29954	588	Coloboma of alar-nasal cartilages with telecanthus	C1859964	ORPHA	51	221
HP:0001252	HP:0001252	Muscular hypotonia	0	POMT2	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	C3150416	OMIM	51	221
HP:0001252	HP:0001252	Muscular hypotonia	0	POU1F1	5449	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		ORPHA	43	36
HP:0001252	HP:0001252	Muscular hypotonia	0	POU1F1	5449	613038	Pituitary hormone deficiency, combined 1	C2751608	OMIM	43	36
HP:0001252	HP:0001252	Muscular hypotonia	0	PPM1B	5495	163693	2p21 microdeletion syndrome		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	PPP2R1A	5518	616362	Mental retardation, autosomal dominant 36	C4225352	OMIM	4	13
HP:0001252	HP:0001252	Muscular hypotonia	0	PPT1	5538	256730	Ceroid lipofuscinosis neuronal 1	C1850451	OMIM	77	172
HP:0001252	HP:0001252	Muscular hypotonia	0	PRDM16	63976	1606	1p36 deletion syndrome		ORPHA	11	148
HP:0001252	HP:0001252	Muscular hypotonia	0	PREPL	9581	163693	2p21 microdeletion syndrome		ORPHA	8	7
HP:0001252	HP:0001252	Muscular hypotonia	0	PREPL	9581	163690	Hypotonia-cystinuria syndrome		ORPHA	8	7
HP:0001252	HP:0001252	Muscular hypotonia	0	PRF1	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	C1863727	OMIM	170	58
HP:0001252	HP:0001252	Muscular hypotonia	0	PRODH	5625	239500	Proline dehydrogenase deficiency	C0268529	OMIM	26	13
HP:0001252	HP:0001252	Muscular hypotonia	0	PROP1	5626	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		ORPHA	34	54
HP:0001252	HP:0001252	Muscular hypotonia	0	PRPS1	5631	1187	Cerebellar agenesis		ORPHA	27	49
HP:0001252	HP:0001252	Muscular hypotonia	0	PRPS1	5631	300661	Phosphoribosylpyrophosphate synthetase superactivity	C1970827	OMIM	27	49
HP:0001252	HP:0001252	Muscular hypotonia	0	PRRT2	112476	306	Camptodactyly arthropathy coxa vara pericarditis syndrome	C1859690	ORPHA	93	94
HP:0001252	HP:0001252	Muscular hypotonia	0	PRX	57716	145900	Dejerine-Sottas disease	C0011195	OMIM	52	170
HP:0001252	HP:0001252	Muscular hypotonia	0	PSAP	5660	611721	Combined saposin deficiency	C2673635	OMIM	24	81
HP:0001252	HP:0001252	Muscular hypotonia	0	PSAP	5660	139406	Encephalopathy due to prosaposin deficiency		ORPHA	24	81
HP:0001252	HP:0001252	Muscular hypotonia	0	PSAP	5660	249900	Sphingolipid activator protein 1 deficiency	C0268262	OMIM	24	81
HP:0001252	HP:0001252	Muscular hypotonia	0	PTCH1	5727	77301	Monosomy 9q22.3		ORPHA	395	665
HP:0001252	HP:0001252	Muscular hypotonia	0	PTDSS1	9791	151050	Lenz-Majewski hyperostosis syndrome	C0432269	OMIM	5	6
HP:0001252	HP:0001252	Muscular hypotonia	0	PTEN	5728	153480	Bannayan-Riley-Ruvalcaba syndrome	C0265326	OMIM	582	948
HP:0001252	HP:0001252	Muscular hypotonia	0	PTPN11	5781	648	Noonan syndrome		ORPHA	133	291
HP:0001252	HP:0001252	Muscular hypotonia	0	PTRH2	51651	616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	C4015728	OMIM	2	6
HP:0001252	HP:0001252	Muscular hypotonia	0	PURA	5813	616158	Mental retardation, autosomal dominant 31	C4015357	OMIM	25	53
HP:0001252	HP:0001252	Muscular hypotonia	0	PUS1	80324	2598	Hard skin syndrome Parana type	C1850079	ORPHA	7	57
HP:0001252	HP:0001252	Muscular hypotonia	0	PYCR1	5831	2078	EEM syndrome	C1857041	ORPHA	35	53
HP:0001252	HP:0001252	Muscular hypotonia	0	QARS	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	C4014239	OMIM	9	96
HP:0001252	HP:0001252	Muscular hypotonia	0	QDPR	5860	261630	Dihydropteridine reductase deficiency	C0268465	OMIM	61	43
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB18	22931	2510	Micro syndrome		ORPHA	5	85
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP1	22930	2510	Micro syndrome		ORPHA	58	90
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP1	22930	600118	Warburg micro syndrome 1	C1838625	OMIM	58	90
HP:0001252	HP:0001252	Muscular hypotonia	0	RAB3GAP2	25782	2510	Micro syndrome		ORPHA	11	135
HP:0001252	HP:0001252	Muscular hypotonia	0	RAF1	5894	648	Noonan syndrome		ORPHA	43	212
HP:0001252	HP:0001252	Muscular hypotonia	0	RAI1	10743	1713	17p11.2 microduplication syndrome		ORPHA	107	150
HP:0001252	HP:0001252	Muscular hypotonia	0	RAI1	10743	819	Smith-Magenis syndrome		ORPHA	107	150
HP:0001252	HP:0001252	Muscular hypotonia	0	RAP1A	5906	2322	Kabuki syndrome		ORPHA	1
HP:0001252	HP:0001252	Muscular hypotonia	0	RAP1B	5908	2322	Kabuki syndrome		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	RAPSN	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	C1837094	OMIM	58	73
HP:0001252	HP:0001252	Muscular hypotonia	0	RARS2	57038	611523	Pontocerebellar hypoplasia type 6	C1969084	OMIM	33	93
HP:0001252	HP:0001252	Muscular hypotonia	0	RASA2	5922	648	Noonan syndrome		ORPHA	3	3
HP:0001252	HP:0001252	Muscular hypotonia	0	RB1	5925	1587	Craniosynostosis arthrogryposis cleft palate		ORPHA	1077	365
HP:0001252	HP:0001252	Muscular hypotonia	0	RBM10	8241	311900	TARP syndrome	C1839463	OMIM	8	16
HP:0001252	HP:0001252	Muscular hypotonia	0	RD3	343035	65	Leber congenital amaurosis		ORPHA	13	95
HP:0001252	HP:0001252	Muscular hypotonia	0	RDH12	145226	65	Leber congenital amaurosis		ORPHA	97	45
HP:0001252	HP:0001252	Muscular hypotonia	0	RERE	473	1606	1p36 deletion syndrome		ORPHA	12	16
HP:0001252	HP:0001252	Muscular hypotonia	0	RET	5979	99803	Haddad syndrome	C1859587	ORPHA	415	572
HP:0001252	HP:0001252	Muscular hypotonia	0	RET	5979	162300	Multiple endocrine neoplasia, type 2b	C0025269	OMIM	415	572
HP:0001252	HP:0001252	Muscular hypotonia	0	RETREG1	54463	201300	Hereditary sensory and autonomic neuropathy type IIA	C2752089	OMIM	5	54
HP:0001252	HP:0001252	Muscular hypotonia	0	REV3L	5980	570	Moebius syndrome		ORPHA	8	3
HP:0001252	HP:0001252	Muscular hypotonia	0	RFC2	5982	904	Blepharophimosis nasal groove growth retardation		ORPHA	2
HP:0001252	HP:0001252	Muscular hypotonia	0	RFT1	91869	612015	Congenital disorder of glycosylation type 1N	C2677590	OMIM	7	92
HP:0001252	HP:0001252	Muscular hypotonia	0	RFT1	91869	244310	RFT1-CDG		ORPHA	7	92
HP:0001252	HP:0001252	Muscular hypotonia	0	RIN2	54453	613075	Macrocephaly, alopecia, cutis laxa, and scoliosis	C2751321	OMIM	3	43
HP:0001252	HP:0001252	Muscular hypotonia	0	RIT1	6016	648	Noonan syndrome		ORPHA	23	39
HP:0001252	HP:0001252	Muscular hypotonia	0	RMRP	6023	175	Cartilage-hair hypoplasia		ORPHA	123	37
HP:0001252	HP:0001252	Muscular hypotonia	0	RNASEH2C	84153	610329	Aicardi Goutieres syndrome 3	C1835916	OMIM	14	60
HP:0001252	HP:0001252	Muscular hypotonia	0	RNF125	54941	616260	Tenorio syndrome	C4015710	OMIM	4	5
HP:0001252	HP:0001252	Muscular hypotonia	0	RNF216	54476	1173	CDG syndrome type 3		ORPHA	12	10
HP:0001252	HP:0001252	Muscular hypotonia	0	RNU4ATAC	100151683	616651	Roifman syndrome	C1846059	OMIM	18	15
HP:0001252	HP:0001252	Muscular hypotonia	0	RPE65	6121	65	Leber congenital amaurosis		ORPHA	181	129
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1	57096	65	Leber congenital amaurosis		ORPHA	123	109
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L	23322	216360	COACH syndrome	C1857662	OMIM	46	167
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L	23322	1454	Common atrioventricular canal	C0221215	ORPHA	46	167
HP:0001252	HP:0001252	Muscular hypotonia	0	RPGRIP1L	23322	220497	Joubert syndrome with renal defect		ORPHA	46	167
HP:0001252	HP:0001252	Muscular hypotonia	0	RPL10	6134	435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		ORPHA	5	10
HP:0001252	HP:0001252	Muscular hypotonia	0	RPS6KA3	6197	303600	Coffin-Lowry syndrome	C0265252	OMIM	163	65
HP:0001252	HP:0001252	Muscular hypotonia	0	RPS6KA3	6197	192	Karandikar Maria Kamble syndrome		ORPHA	163	65
HP:0001252	HP:0001252	Muscular hypotonia	0	RPS6KA3	6197	300844	Mental retardation, X-linked 19	C0796225	OMIM	163	65
HP:0001252	HP:0001252	Muscular hypotonia	0	RREB1	6239	567	22q11.2 deletion syndrome		ORPHA	11
HP:0001252	HP:0001252	Muscular hypotonia	0	RRM2B	50484	480	Acrorenal mandibular syndrome	C1860166	ORPHA	41	125
HP:0001252	HP:0001252	Muscular hypotonia	0	RRM2B	50484	612075	Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy	C2749861	OMIM	41	125
HP:0001252	HP:0001252	Muscular hypotonia	0	RYR1	6261	597	Central core disease		ORPHA	602	1200
HP:0001252	HP:0001252	Muscular hypotonia	0	SARS2	54938	613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis	C3151209	OMIM	4	60
HP:0001252	HP:0001252	Muscular hypotonia	0	SATB2	23314	251019	2q32q33 microdeletion syndrome		ORPHA	35	34
HP:0001252	HP:0001252	Muscular hypotonia	0	SC5D	6309	46059	Lathosterolosis		ORPHA	6	80
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN1A	6323	33069	Dravet syndrome		ORPHA	1443	1053
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN1B	6324	33069	Dravet syndrome		ORPHA	21	126
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN2A	6326	306	Camptodactyly arthropathy coxa vara pericarditis syndrome	C1859690	ORPHA	204	427
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN2A	6326	33069	Dravet syndrome		ORPHA	204	427
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN8A	6334	306	Camptodactyly arthropathy coxa vara pericarditis syndrome	C1859690	ORPHA	65	357
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN8A	6334	614558	Early infantile epileptic encephalopathy 13	C3281191	OMIM	65	357
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN9A	6335	33069	Dravet syndrome		ORPHA	106	318
HP:0001252	HP:0001252	Muscular hypotonia	0	SCN9A	6335	201300	Hereditary sensory and autonomic neuropathy type IIA	C2752089	OMIM	106	318
HP:0001252	HP:0001252	Muscular hypotonia	0	SCO1	6341	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	5	46
HP:0001252	HP:0001252	Muscular hypotonia	0	SCO2	9997	604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency	C1858424	OMIM	32	40
HP:0001252	HP:0001252	Muscular hypotonia	0	SDHA	6389	256000	Leigh syndrome	C0023264	OMIM	44	304
HP:0001252	HP:0001252	Muscular hypotonia	0	SEC24C	9632	567	22q11.2 deletion syndrome		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	SEC24D	9871	2050	Ectodermal dysplasia Margarita type		ORPHA	11	5
HP:0001252	HP:0001252	Muscular hypotonia	0	SELENON	57190	2020	Congenital fiber-type disproportion myopathy		ORPHA	59	144
HP:0001252	HP:0001252	Muscular hypotonia	0	SELENON	57190	602771	Eichsfeld type congenital muscular dystrophy	C0410180	OMIM	59	144
HP:0001252	HP:0001252	Muscular hypotonia	0	SEMA3E	9723	138	CHARGE syndrome		ORPHA	3	16
HP:0001252	HP:0001252	Muscular hypotonia	0	SEMA5A	9037	281	Ramer Ladda syndrome		ORPHA	7	6
HP:0001252	HP:0001252	Muscular hypotonia	0	SERAC1	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	C3553597	OMIM	23	47
HP:0001252	HP:0001252	Muscular hypotonia	0	SETD2	29072	821	Bardet-Biedl syndrome 2	C2936863	ORPHA	10	60
HP:0001252	HP:0001252	Muscular hypotonia	0	SFXN4	119559	615578	Combined oxidative phosphorylation deficiency 18	C3810001	OMIM	4	17
HP:0001252	HP:0001252	Muscular hypotonia	0	SIK1	150094	1935	Early myoclonic encephalopathy		ORPHA	6	11
HP:0001252	HP:0001252	Muscular hypotonia	0	SIL1	64374	248800	Marinesco-Sjögren syndrome	C0024814	OMIM	49	67
HP:0001252	HP:0001252	Muscular hypotonia	0	SIM1	6492	171829	6q16 deletion syndrome		ORPHA	42	40
HP:0001252	HP:0001252	Muscular hypotonia	0	SIN3A	25942	613406	Witteveen-kolk syndrome	C3150674	OMIM	13	9
HP:0001252	HP:0001252	Muscular hypotonia	0	SIX3	6496	157170	Holoprosencephaly 2	C1834877	OMIM	82	32
HP:0001252	HP:0001252	Muscular hypotonia	0	SIX6	4990	264200	14q22q23 microdeletion syndrome		ORPHA	9	20
HP:0001252	HP:0001252	Muscular hypotonia	0	SIX6	4990	206900	Microphthalmia syndromic 3	C1859773	OMIM	9	20
HP:0001252	HP:0001252	Muscular hypotonia	0	SKI	6497	1606	1p36 deletion syndrome		ORPHA	20	150
HP:0001252	HP:0001252	Muscular hypotonia	0	SKI	6497	182212	Shprintzen-Goldberg syndrome	C1321551	OMIM	20	150
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC17A5	26503	604369	Salla disease	C1096903	OMIM	34	78
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC17A5	26503	269920	Sialic acid storage disease, severe infantile type	C1096902	OMIM	34	78
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC1A4	6509	616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	C4225254	OMIM	4	4
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC22A5	6584	212140	Renal carnitine transport defect	C0342788	OMIM	121	207
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A15	10166	238970	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	C0268540	OMIM	35	88
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A19	60386	99742	Amish lethal microcephaly		ORPHA	2	36
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A20	788	212138	Carnitine acylcarnitine translocase deficiency	C0342791	OMIM	41	40
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A22	79751	1935	Early myoclonic encephalopathy		ORPHA	9	166
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A3	5250	91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome		ORPHA	5	35
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A3	5250	610773	Mitochondrial phosphate carrier deficiency	C1835845	OMIM	5	35
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC25A46	91137	616505	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB	C4225302	OMIM	11	14
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A2	1836	628	Diastrophic dwarfism		ORPHA	51	166
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A4	5172	95713	Athyreosis		ORPHA	527	274
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC26A4	5172	95720	Thyroid hypoplasia		ORPHA	527	274
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC33A1	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	C3280965	OMIM	7	48
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC34A3	142680	241530	Autosomal recessive hypophosphatemic bone disease	C0342645	OMIM	38	52
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC35A2	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	C3806688	OMIM	14	27
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC35A3	23443	615553	Arthrogryposis, mental retardation, and seizures	C3809910	OMIM	4	2
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC35C1	55343	266265	Congenital disorder of glycosylation type 2C	C0796132	OMIM	7	71
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC39A8	64116	616721	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	C4225234	OMIM	7	11
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC3A1	6519	163693	2p21 microdeletion syndrome		ORPHA	177	55
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC3A1	6519	163690	Hypotonia-cystinuria syndrome		ORPHA	177	55
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC46A1	113235	229050	Congenital defect of folate absorption	C0342705	OMIM	20	101
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A2	79581	614707	Brown-Vialetto-Van Laere syndrome 2	C3553538	OMIM	16	47
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A2	79581	97229	Riboflavin transporter deficiency		ORPHA	16	47
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A3	113278	211530	Brown-Vialetto-Van Laere syndrome 1	CN029849	OMIM	31	51
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC52A3	113278	97229	Riboflavin transporter deficiency		ORPHA	31	51
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC5A5	6528	95716	Familial thyroid dyshormonogenesis		ORPHA	15	59
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC6A19	340024	2116	Encephalopathy-basal ganglia-calcification		ORPHA	25	12
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC6A8	6535	52503	X-linked creatine transporter deficiency		ORPHA	127	122
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC7A7	9056	222700	Lysinuric protein intolerance	C0268647	OMIM	66	104
HP:0001252	HP:0001252	Muscular hypotonia	0	SLC9A6	10479	300243	Christianson syndrome	C2678194	OMIM	18	93
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCA4	6597	1465	Coffin-Siris syndrome		ORPHA	44	617
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCB1	6598	1465	Coffin-Siris syndrome		ORPHA	116	87
HP:0001252	HP:0001252	Muscular hypotonia	0	SMARCE1	6605	1465	Coffin-Siris syndrome		ORPHA	11	47
HP:0001252	HP:0001252	Muscular hypotonia	0	SMPD1	6609	257200	Niemann-Pick disease, type A	C0268242	OMIM	237	164
HP:0001252	HP:0001252	Muscular hypotonia	0	SMS	6611	309583	Snyder Robinson syndrome	C0796160	OMIM	10	19
HP:0001252	HP:0001252	Muscular hypotonia	0	SNAP29	9342	609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	C1836033	OMIM	12	94
HP:0001252	HP:0001252	Muscular hypotonia	0	SNIP1	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	C3281055	OMIM	1	3
HP:0001252	HP:0001252	Muscular hypotonia	0	SNX14	57231	616354	Spinocerebellar ataxia, autosomal recessive 20	C4225355	OMIM	12	14
HP:0001252	HP:0001252	Muscular hypotonia	0	SOS1	6654	648	Noonan syndrome		ORPHA	68	315
HP:0001252	HP:0001252	Muscular hypotonia	0	SOS2	6655	648	Noonan syndrome		ORPHA	6	30
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX10	6663	163746	Neurologic Waardenburg-Shah syndrome		ORPHA	130	61
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX11	6664	1465	Coffin-Siris syndrome		ORPHA	13	14
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX2	6657	206900	Microphthalmia syndromic 3	C1859773	OMIM	97	33
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX5	6660	313892	Developmental and speech delay due to SOX5 deficiency		ORPHA	22	11
HP:0001252	HP:0001252	Muscular hypotonia	0	SOX9	6662	114290	Camptomelic dysplasia	C1861922	OMIM	139	109
HP:0001252	HP:0001252	Muscular hypotonia	0	SPARC	6678	616507	Osteogenesis imperfecta, type xvii	C4225301	OMIM	4	2
HP:0001252	HP:0001252	Muscular hypotonia	0	SPATA7	55812	65	Leber congenital amaurosis		ORPHA	29	48
HP:0001252	HP:0001252	Muscular hypotonia	0	SPECC1L	23384	145410	Opitz G/BBB syndrome	C1801950	OMIM	6	6
HP:0001252	HP:0001252	Muscular hypotonia	0	SPRED1	161742	611431	Legius syndrome	C1969623	OMIM	71	136
HP:0001252	HP:0001252	Muscular hypotonia	0	SPTAN1	6709	613477	Early infantile epileptic encephalopathy 5	C3150731	OMIM	19	416
HP:0001252	HP:0001252	Muscular hypotonia	0	SRD5A3	79644	612379	Congenital disorder of glycosylation type 1Q	C3150191	OMIM	16	80
HP:0001252	HP:0001252	Muscular hypotonia	0	SSR4	6748	300934	Congenital disorder of glycosylation type 1y	C4012395	OMIM	6	12
HP:0001252	HP:0001252	Muscular hypotonia	0	ST3GAL5	8869	609056	Amish infantile epilepsy syndrome	C1836824	OMIM	4	47
HP:0001252	HP:0001252	Muscular hypotonia	0	STAMBP	10617	614261	Microcephaly-capillary malformation syndrome	C3280296	OMIM	16	24
HP:0001252	HP:0001252	Muscular hypotonia	0	STIM1	6786	612783	Immune dysfunction with T-cell inactivation due to calcium entry defect 2	C2748557	OMIM	20	31
HP:0001252	HP:0001252	Muscular hypotonia	0	STRA6	64220	601186	Microphthalmia syndromic 9	C1832661	OMIM	31	71
HP:0001252	HP:0001252	Muscular hypotonia	0	STT3A	3703	615596	Congenital disorder of glycosylation type 1w	C3810062	OMIM	1	21
HP:0001252	HP:0001252	Muscular hypotonia	0	STT3B	201595	615597	Congenital disorder of glycosylation type 1x	C3810067	OMIM	2	18
HP:0001252	HP:0001252	Muscular hypotonia	0	STXBP1	6812	33069	Dravet syndrome		ORPHA	168	237
HP:0001252	HP:0001252	Muscular hypotonia	0	STXBP1	6812	612164	Early infantile epileptic encephalopathy 4	C2677326	OMIM	168	237
HP:0001252	HP:0001252	Muscular hypotonia	0	SUCLA2	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	C2749864	OMIM	27	66
HP:0001252	HP:0001252	Muscular hypotonia	0	SUCLG1	8802	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)	C3151476	OMIM	28	60
HP:0001252	HP:0001252	Muscular hypotonia	0	SURF1	6834	256000	Leigh syndrome	C0023264	OMIM	98	73
HP:0001252	HP:0001252	Muscular hypotonia	0	SYNGAP1	8831	612621	Mental retardation, autosomal dominant 5	C2675473	OMIM	59	108
HP:0001252	HP:0001252	Muscular hypotonia	0	SZT2	23334	615476	Early infantile epileptic encephalopathy 18	C3809624	OMIM	8	123
HP:0001252	HP:0001252	Muscular hypotonia	0	TACO1	51204	220110	Cytochrome-c oxidase deficiency	C0268237	OMIM	2	23
HP:0001252	HP:0001252	Muscular hypotonia	0	TBC1D20	128637	2510	Micro syndrome		ORPHA	5	15
HP:0001252	HP:0001252	Muscular hypotonia	0	TBL2	26608	904	Blepharophimosis nasal groove growth retardation		ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	TBX1	6899	567	22q11.2 deletion syndrome		ORPHA	65	32
HP:0001252	HP:0001252	Muscular hypotonia	0	TBX1	6899	1727	22q11.2 microduplication syndrome		ORPHA	65	32
HP:0001252	HP:0001252	Muscular hypotonia	0	TBX1	6899	192430	Shprintzen syndrome	C0220704	OMIM	65	32
HP:0001252	HP:0001252	Muscular hypotonia	0	TCF4	6925	610954	Pitt-Hopkins syndrome	C1970431	OMIM	132	241
HP:0001252	HP:0001252	Muscular hypotonia	0	TCTN1	79600	475	Acquired hypoprothrombinemia		ORPHA	6	45
HP:0001252	HP:0001252	Muscular hypotonia	0	TCTN2	79867	475	Acquired hypoprothrombinemia		ORPHA	13	76
HP:0001252	HP:0001252	Muscular hypotonia	0	TCTN2	79867	616654	Joubert syndrome 24	C4084841	OMIM	13	76
HP:0001252	HP:0001252	Muscular hypotonia	0	TECPR2	9895	615031	Spastic paraplegia 49, autosomal recessive	C3542549	OMIM	5	39
HP:0001252	HP:0001252	Muscular hypotonia	0	TG	7038	95716	Familial thyroid dyshormonogenesis		ORPHA	111	155
HP:0001252	HP:0001252	Muscular hypotonia	0	TGFBR2	7048	144	Mac Dermot Winter syndrome	C0796024	ORPHA	132	253
HP:0001252	HP:0001252	Muscular hypotonia	0	THOC2	57187	300957	Mental retardation, X-linked 12	C0796218	OMIM	5	5
HP:0001252	HP:0001252	Muscular hypotonia	0	THRA	7067	97927	Peripheral resistance to thyroid hormones		ORPHA	14	9
HP:0001252	HP:0001252	Muscular hypotonia	0	THRB	7068	97927	Peripheral resistance to thyroid hormones		ORPHA	154	161
HP:0001252	HP:0001252	Muscular hypotonia	0	TK2	7084	609560	Mitochondrial DNA depletion syndrome 2	C3149750	OMIM	44	103
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM126B	55863	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	4
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM138	51524	2318	Joubert syndrome with oculorenal defect		ORPHA	7	39
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM165	55858	614727	Congenital disorder of glycosylation type 2k	C3553571	OMIM	6	24
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM216	51259	608091	Joubert syndrome 2	C1842577	OMIM	8	45
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM216	51259	2318	Joubert syndrome with oculorenal defect		ORPHA	8	45
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM231	79583	2318	Joubert syndrome with oculorenal defect		ORPHA	18	33
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237	65062	475	Acquired hypoprothrombinemia		ORPHA	10	82
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237	65062	614424	Joubert syndrome 14	C3280766	OMIM	10	82
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237	65062	2318	Joubert syndrome with oculorenal defect		ORPHA	10	82
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM237	65062	220497	Joubert syndrome with renal defect		ORPHA	10	82
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67	91147	475	Acquired hypoprothrombinemia		ORPHA	148	166
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67	91147	216360	COACH syndrome	C1857662	OMIM	148	166
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67	91147	1454	Common atrioventricular canal	C0221215	ORPHA	148	166
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM67	91147	610688	Joubert syndrome 6	C1853153	OMIM	148	166
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM70	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	C3279699	OMIM	18	63
HP:0001252	HP:0001252	Muscular hypotonia	0	TMEM70	54968	1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		ORPHA	18	63
HP:0001252	HP:0001252	Muscular hypotonia	0	TNXB	7148	230839	Ehlers-Danlos syndrome due to tenascin-X deficiency		ORPHA	34	134
HP:0001252	HP:0001252	Muscular hypotonia	0	TOR1A	1861	128100	Dystonia 1	C1851945	OMIM	14	47
HP:0001252	HP:0001252	Muscular hypotonia	0	TPI1	7167	868	Triose phosphate-isomerase deficiency		ORPHA	19	28
HP:0001252	HP:0001252	Muscular hypotonia	0	TPI1	7167	615512	Triosephosphate isomerase deficiency	C1860808	OMIM	19	28
HP:0001252	HP:0001252	Muscular hypotonia	0	TPK1	27010	614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	C3280866	OMIM	11	21
HP:0001252	HP:0001252	Muscular hypotonia	0	TPM2	7169	2020	Congenital fiber-type disproportion myopathy		ORPHA	38	54
HP:0001252	HP:0001252	Muscular hypotonia	0	TPM2	7169	609285	Nemaline myopathy 4	C1836447	OMIM	38	54
HP:0001252	HP:0001252	Muscular hypotonia	0	TPM3	7170	2020	Congenital fiber-type disproportion myopathy		ORPHA	27	108
HP:0001252	HP:0001252	Muscular hypotonia	0	TPO	7173	95716	Familial thyroid dyshormonogenesis		ORPHA	117	92
HP:0001252	HP:0001252	Muscular hypotonia	0	TRAPPC11	60684	615356	Limb-girdle muscular dystrophy, type 2S	C3809236	OMIM	8	27
HP:0001252	HP:0001252	Muscular hypotonia	0	TRAPPC9	83696	352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		ORPHA	10	158
HP:0001252	HP:0001252	Muscular hypotonia	0	TRIM37	4591	253250	Mulibrey nanism syndrome	C0524582	OMIM	18	78
HP:0001252	HP:0001252	Muscular hypotonia	0	TRMT5	57570	616539	Combined oxidative phosphorylation deficiency 26	C4225290	OMIM	3	4
HP:0001252	HP:0001252	Muscular hypotonia	0	TRMU	55687	613070	Liver failure acute infantile	C2751567	OMIM	16	101
HP:0001252	HP:0001252	Muscular hypotonia	0	TRNL1	4567	480	Acrorenal mandibular syndrome	C1860166	ORPHA
HP:0001252	HP:0001252	Muscular hypotonia	0	TRNT1	51095	616084	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	C4015172	OMIM	21	28
HP:0001252	HP:0001252	Muscular hypotonia	0	TRNW	4578	251900	Mitochondrial myopathy	C0162670	OMIM
HP:0001252	HP:0001252	Muscular hypotonia	0	TRPS1	7227	77258	Trichorhinophalangeal syndrome type 1 and 3		ORPHA	136	171
HP:0001252	HP:0001252	Muscular hypotonia	0	TRPV4	59341	1216	Autosomal dominant congenital benign spinal muscular atrophy		ORPHA	71	214
HP:0001252	HP:0001252	Muscular hypotonia	0	TSHB	7252	90674	Isolated thyroid-stimulating hormone deficiency		ORPHA	13	9
HP:0001252	HP:0001252	Muscular hypotonia	0	TSHB	7252	275100	Secondary hypothyroidism	C0271789	OMIM	13	9
HP:0001252	HP:0001252	Muscular hypotonia	0	TSHR	7253	95713	Athyreosis		ORPHA	129	97
HP:0001252	HP:0001252	Muscular hypotonia	0	TSHR	7253	90673	Hypothyroidism due to TSH receptor mutations		ORPHA	129	97
HP:0001252	HP:0001252	Muscular hypotonia	0	TSHR	7253	95720	Thyroid hypoplasia		ORPHA	129	97
HP:0001252	HP:0001252	Muscular hypotonia	0	TUBA1A	7846	611603	Lissencephaly 3	C1969029	OMIM	63	106
HP:0001252	HP:0001252	Muscular hypotonia	0	TUBB2A	7280	615763	Cortical dysplasia, complex, with other brain malformations 5	C3810407	OMIM	4	23
HP:0001252	HP:0001252	Muscular hypotonia	0	TULP1	7287	65	Leber congenital amaurosis		ORPHA	69	66
HP:0001252	HP:0001252	Muscular hypotonia	0	TWNK	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	C1849096	OMIM	74	113
HP:0001252	HP:0001252	Muscular hypotonia	0	UBA1	7317	1145	Cataract and congenital ichthyosis	C1859315	ORPHA	4	35
HP:0001252	HP:0001252	Muscular hypotonia	0	UBE3A	7337	238446	15q11q13 microduplication syndrome		ORPHA	179	278
HP:0001252	HP:0001252	Muscular hypotonia	0	UBE3A	7337	105830	Angelman syndrome	C0162635	OMIM	179	278
HP:0001252	HP:0001252	Muscular hypotonia	0	UBE3B	89910	244450	Kaufman oculocerebrofacial syndrome	C1855663	OMIM	16	13
HP:0001252	HP:0001252	Muscular hypotonia	0	UBR1	197131	243800	Johanson-Blizzard syndrome	C0175692	OMIM	64	25
HP:0001252	HP:0001252	Muscular hypotonia	0	UFD1	7353	567	22q11.2 deletion syndrome		ORPHA	4
HP:0001252	HP:0001252	Muscular hypotonia	0	UPF3B	65109	776	X-linked intellectual disability with marfanoid habitus		ORPHA	16	33
HP:0001252	HP:0001252	Muscular hypotonia	0	UQCC3	790955	616111	Mitochondrial complex III deficiency, nuclear type 9	C4015253	OMIM	1	6
HP:0001252	HP:0001252	Muscular hypotonia	0	UQCRQ	27089	615159	Mitochondrial complex III deficiency, nuclear type 4	C3554607	OMIM	1	34
HP:0001252	HP:0001252	Muscular hypotonia	0	USP9X	8239	300919	Mental retardation, X-linked 99	C3806746	OMIM	22	27
HP:0001252	HP:0001252	Muscular hypotonia	0	VARS2	57176	615917	Combined oxidative phosphorylation deficiency 20	C4014660	OMIM	5	56
HP:0001252	HP:0001252	Muscular hypotonia	0	VDR	7421	277440	Vitamin D-dependent rickets, type 2	C0268690	OMIM	68	104
HP:0001252	HP:0001252	Muscular hypotonia	0	VIPAS39	63894	613404	Arthrogryposis, renal dysfunction, and cholestasis 2	C3150672	OMIM	12	27
HP:0001252	HP:0001252	Muscular hypotonia	0	VLDLR	7436	224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	CN074243	OMIM	27	111
HP:0001252	HP:0001252	Muscular hypotonia	0	VLDLR	7436	1766	Dysequilibrium syndrome		ORPHA	27	111
HP:0001252	HP:0001252	Muscular hypotonia	0	VPS13A	23230	2388	Friedreich ataxia congenital glaucoma	C1856688	ORPHA	113	130
HP:0001252	HP:0001252	Muscular hypotonia	0	VPS13B	157680	193	Opitz G/BBB syndrome	C1801950	ORPHA	188	546
HP:0001252	HP:0001252	Muscular hypotonia	0	VPS33B	26276	208085	Arthrogryposis renal dysfunction cholestasis syndrome	C1859722	OMIM	55	63
HP:0001252	HP:0001252	Muscular hypotonia	0	VRK1	7443	607596	Pontocerebellar hypoplasia type 1A	C1843504	OMIM	8	32
HP:0001252	HP:0001252	Muscular hypotonia	0	WASHC5	9897	7	Acromicric dysplasia	C0265287	ORPHA	16	83
HP:0001252	HP:0001252	Muscular hypotonia	0	WASHC5	9897	220210	Dandy-Walker like malformation with atrioventricular septal defect	C0796137	OMIM	16	83
HP:0001252	HP:0001252	Muscular hypotonia	0	WDR73	84942	83472	CAMOS syndrome		ORPHA	11	14
HP:0001252	HP:0001252	Muscular hypotonia	0	WDR73	84942	251300	Galloway-Mowat syndrome	C0795949	OMIM	11	14
HP:0001252	HP:0001252	Muscular hypotonia	0	WDR81	124997	1766	Dysequilibrium syndrome		ORPHA	3	27
HP:0001252	HP:0001252	Muscular hypotonia	0	WNK1	65125	201300	Hereditary sensory and autonomic neuropathy type IIA	C2752089	OMIM	16	199
HP:0001252	HP:0001252	Muscular hypotonia	0	YARS2	51067	2598	Hard skin syndrome Parana type	C1850079	ORPHA	10	45
HP:0001252	HP:0001252	Muscular hypotonia	0	YWHAE	7531	217385	17p13.3 microduplication syndrome		ORPHA	42	14
HP:0001252	HP:0001252	Muscular hypotonia	0	ZBTB18	10472	612337	Mental retardation, autosomal dominant 22	C2676727	OMIM	23	16
HP:0001252	HP:0001252	Muscular hypotonia	0	ZBTB20	26137	259050	Primrose syndrome	C0796121	OMIM	11	17
HP:0001252	HP:0001252	Muscular hypotonia	0	ZDHHC9	51114	776	X-linked intellectual disability with marfanoid habitus		ORPHA	10	10
HP:0001252	HP:0001252	Muscular hypotonia	0	ZEB2	9839	235730	Mowat-Wilson syndrome	C1856113	OMIM	248	362
HP:0001252	HP:0001252	Muscular hypotonia	0	ZIC1	7545	616602	Craniosynostosis 6	C4225269	OMIM	8	5
HP:0001252	HP:0001252	Muscular hypotonia	0	ZNF423	23090	2318	Joubert syndrome with oculorenal defect		ORPHA	6	49
HP:0001252	HP:0001252	Muscular hypotonia	0	ZNF592	9640	83472	CAMOS syndrome		ORPHA	1	4
HP:0001252	HP:0001252	Muscular hypotonia	0	ZNF592	9640	251300	Galloway-Mowat syndrome	C0795949	OMIM	1	4
HP:0001252	HP:0031139	Frog-leg posture	1
HP:0001252	HP:0012389	Appendicular hypotonia	1
HP:0001252	HP:0030190	Oral motor hypotonia	1
HP:0001252	HP:0006829	Severe muscular hypotonia	1	ABAT	18	613163	Gamma-aminobutyric acid transaminase deficiency	C0342708	OMIM	9	120
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ABCC8	6833	79134	DEND syndrome		ORPHA	612	245
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ABCC8	6833	606176	Permanent neonatal diabetes mellitus	C1833104	OMIM	612	245
HP:0001252	HP:0001319	Neonatal hypotonia	1	ACOX1	51	264470	Pseudoneonatal adrenoleukodystrophy	C1849678	OMIM	24	120
HP:0001252	HP:0001319	Neonatal hypotonia	1	ACTA1	58	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	205	96
HP:0001252	HP:0001319	Neonatal hypotonia	1	ACTA1	58	161800	Nemaline myopathy 3	C1834336	OMIM	205	96
HP:0001252	HP:0001319	Neonatal hypotonia	1	ACTA1	58	97240	Zebra body myopathy		ORPHA	205	96
HP:0001252	HP:0001290	Generalized hypotonia	1	ADSL	158	46	46,XX testicular disorder of sex development	C2936420	ORPHA	53	118
HP:0001252	HP:0001290	Generalized hypotonia	1	AIFM1	9131	238329	Severe X-linked mitochondrial encephalomyopathy		ORPHA	23	60
HP:0001252	HP:0006829	Severe muscular hypotonia	1	AIFM1	9131	238329	Severe X-linked mitochondrial encephalomyopathy		ORPHA	23	60
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	AIMP1	9255	260600	Leukodystrophy, hypomyelinating 3	C1850053	OMIM	5	4
HP:0001252	HP:0001319	Neonatal hypotonia	1	ALG11	440138	613661	Congenital disorder of glycosylation type 1P	C3150913	OMIM	12	41
HP:0001252	HP:0001290	Generalized hypotonia	1	ALG13	79868	324422	ALG13-CDG		ORPHA	6	96
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ALG3	10195	601110	Congenital disorder of glycosylation type 1D	C1832736	OMIM	14	37
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ALG6	29929	603147	Congenital disorder of glycosylation type 1C	C1864178	OMIM	26	66
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	AMPD2	271	615809	Pontocerebellar hypoplasia, type 9	C4014354	OMIM	12	21
HP:0001252	HP:0001319	Neonatal hypotonia	1	AP4B1	10717	614066	Spastic paraplegia 47, autosomal recessive	C3279738	OMIM	10	49
HP:0001252	HP:0000297	Facial hypotonia	1	AP4E1	23431	613744	Spastic paraplegia 51, autosomal recessive	C3151056	OMIM	9	48
HP:0001252	HP:0001319	Neonatal hypotonia	1	AP4E1	23431	613744	Spastic paraplegia 51, autosomal recessive	C3151056	OMIM	9	48
HP:0001252	HP:0001319	Neonatal hypotonia	1	AP4M1	9179	612936	Spastic paraplegia 50, autosomal recessive	C2752008	OMIM	6	41
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ARX	170302	308350	Epileptic encephalopathy, early infantile, 1	C3463992	OMIM	82	166
HP:0001252	HP:0001319	Neonatal hypotonia	1	ARX	170302	300004	Proud Levine Carpenter syndrome	C0796124	OMIM	82	166
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	ASNS	440	615574	Asparagine synthetase deficiency	C3809971	OMIM	13	17
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	ATRX	546	301040	ATR-X syndrome	C1845055	OMIM	152	169
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	ATRX	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	C0796003	OMIM	152	169
HP:0001252	HP:0006829	Severe muscular hypotonia	1	B3GALNT2	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	C3554638	OMIM	13	43
HP:0001252	HP:0006829	Severe muscular hypotonia	1	B4GAT1	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	C3809042	OMIM	5	17
HP:0001252	HP:0001319	Neonatal hypotonia	1	BIN1	274	255200	Autosomal recessive centronuclear myopathy	C0410204	OMIM	16	99
HP:0001252	HP:0006829	Severe muscular hypotonia	1	BMP4	652	607932	Microphthalmia syndromic 6	C1864689	OMIM	43	38
HP:0001252	HP:0001319	Neonatal hypotonia	1	BRAF	673	613707	LEOPARD syndrome 3	C3150971	OMIM	61	276
HP:0001252	HP:0001290	Generalized hypotonia	1	BUB1B	701	257300	Mosaic variegated aneuploidy syndrome	C1850343	OMIM	25	76
HP:0001252	HP:0001319	Neonatal hypotonia	1	CAMTA1	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	C3553661	OMIM	8	34
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	CASK	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	C2677903	OMIM	83	118
HP:0001252	HP:0001290	Generalized hypotonia	1	CASK	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	C2677903	OMIM	83	118
HP:0001252	HP:0006829	Severe muscular hypotonia	1	CCDC88A	55704	260565	PEHO syndrome	C1850055	OMIM	1	1
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHKB	1120	602541	Muscular dystrophy, congenital, megaconial type	C1865233	OMIM	23	53
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	CHMP1A	5119	614961	Pontocerebellar hypoplasia type 8	C3554209	OMIM	2	19
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRNA1	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	C1837122	OMIM	32	74
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRNB1	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	C4225374	OMIM	8	53
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRNB1	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	C4225373	OMIM	8	53
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRND	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	C4225372	OMIM	21	88
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRND	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	C4225371	OMIM	21	88
HP:0001252	HP:0001290	Generalized hypotonia	1	CHRNE	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	C1853949	OMIM	126	139
HP:0001252	HP:0001319	Neonatal hypotonia	1	CHRNE	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	C4225369	OMIM	126	139
HP:0001252	HP:0001319	Neonatal hypotonia	1	CLPB	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	C4225393	OMIM	21	38
HP:0001252	HP:0001319	Neonatal hypotonia	1	CNTN1	1272	612540	Myopathy, congenital, compton-north	C2675527	OMIM	2	40
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	COG4	25839	613489	Congenital disorder of glycosylation type 2J	C3150736	OMIM	4	67
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	COL1A1	1277	130000	Ehlers-Danlos syndrome, classic type	C0268335	OMIM	916	373
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	COL4A3BP	10087	616351	Mental retardation, autosomal dominant 34	C4225156	OMIM	5	4
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	COL5A1	1289	130000	Ehlers-Danlos syndrome, classic type	C0268335	OMIM	136	660
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	COL5A2	1290	130000	Ehlers-Danlos syndrome, classic type	C0268335	OMIM	23	325
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A1	1291	158810	Bethlem myopathy 1	CN029274	OMIM	108	442
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A1	1291	254090	Ullrich congenital muscular dystrophy 1	CN033863	OMIM	108	442
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A2	1292	158810	Bethlem myopathy 1	CN029274	OMIM	144	478
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A2	1292	254090	Ullrich congenital muscular dystrophy 1	CN033863	OMIM	144	478
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A3	1293	158810	Bethlem myopathy 1	CN029274	OMIM	112	702
HP:0001252	HP:0001319	Neonatal hypotonia	1	COL6A3	1293	254090	Ullrich congenital muscular dystrophy 1	CN033863	OMIM	112	702
HP:0001252	HP:0001290	Generalized hypotonia	1	CPLX1	10815	194190	4p partial monosomy syndrome	C1956097	OMIM	1	1
HP:0001252	HP:0001319	Neonatal hypotonia	1	CPT2	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	C1833518	OMIM	104	101
HP:0001252	HP:0001290	Generalized hypotonia	1	CTBP1	1487	194190	4p partial monosomy syndrome	C1956097	OMIM	1	2
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	DARS	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	C3809008	OMIM	14	24
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	DCX	1641	300067	Lissencephaly, X-linked	C1848199	OMIM	138	145
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	DDC	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	C1291564	OMIM	53	43
HP:0001252	HP:0001290	Generalized hypotonia	1	DHCR7	1717	270400	Smith-Lemli-Opitz syndrome	C0175694	OMIM	198	159
HP:0001252	HP:0001319	Neonatal hypotonia	1	DLAT	1737	245348	Pyruvate dehydrogenase E2 deficiency	C1855565	OMIM	4	82
HP:0001252	HP:0006829	Severe muscular hypotonia	1	DPM2	8818	615042	Congenital disorder of glycosylation type 1u	C3554385	OMIM	2	26
HP:0001252	HP:0001319	Neonatal hypotonia	1	DST	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	C3539003	OMIM	6	108
HP:0001252	HP:0001319	Neonatal hypotonia	1	EARS2	124454	614924	Combined oxidative phosphorylation deficiency 12	C3554079	OMIM	27	80
HP:0001252	HP:0001319	Neonatal hypotonia	1	EEF1A2	1917	616409	Epileptic encephalopathy, early infantile, 33	C4225337	OMIM	10	60
HP:0001252	HP:0001319	Neonatal hypotonia	1	EEF1A2	1917	616393	Mental retardation, autosomal dominant 38	C4225343	OMIM	10	60
HP:0001252	HP:0001319	Neonatal hypotonia	1	EGR2	1959	605253	Congenital hypomyelinating neuropathy	C0393818	OMIM	23	58
HP:0001252	HP:0001319	Neonatal hypotonia	1	ERCC6L2	375748	615715	Bone marrow failure syndrome 2	C3810350	OMIM	2	4
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	ERMARD	55780	75857	6q terminal deletion syndrome		ORPHA	2	36
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	EXOSC3	51010	614678	Pontocerebellar hypoplasia, type 1b	C3553449	OMIM	18	38
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	FAM126A	84668	610532	Hypomyelination and Congenital Cataract	C2674508	OMIM	12	90
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	FGFR3	2261	100800	Achondroplasia	C0001080	OMIM	69	145
HP:0001252	HP:0001290	Generalized hypotonia	1	FGFRL1	53834	194190	4p partial monosomy syndrome	C1956097	OMIM	7
HP:0001252	HP:0001319	Neonatal hypotonia	1	FKRP	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	C1847759	OMIM	114	157
HP:0001252	HP:0006829	Severe muscular hypotonia	1	FKRP	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	C3150413	OMIM	114	157
HP:0001252	HP:0006829	Severe muscular hypotonia	1	FKRP	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	CN033898	OMIM	114	157
HP:0001252	HP:0006829	Severe muscular hypotonia	1	FKTN	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	CN033898	OMIM	51	184
HP:0001252	HP:0001319	Neonatal hypotonia	1	FLNA	2316	300321	FG syndrome 2	C1845902	OMIM	211	493
HP:0001252	HP:0001319	Neonatal hypotonia	1	FOXG1	2290	613454	Rett syndrome, congenital variant	C3150705	OMIM	116	177
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	GAMT	2593	612736	Deficiency of guanidinoacetate methyltransferase	C0574080	OMIM	53	91
HP:0001252	HP:0001290	Generalized hypotonia	1	GAN	8139	643	Giant axonal neuropathy		ORPHA	74	121
HP:0001252	HP:0001319	Neonatal hypotonia	1	GATAD2B	57459	615074	Mental retardation, autosomal dominant 18	C3554448	OMIM	11	33
HP:0001252	HP:0006829	Severe muscular hypotonia	1	GCH1	2643	233910	GTP cyclohydrolase I deficiency	C0268467	OMIM	229	86
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	GCK	2645	606176	Permanent neonatal diabetes mellitus	C1833104	OMIM	778	237
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	GFM1	85476	609060	Combined oxidative phosphorylation deficiency 1	C1836797	OMIM	18	85
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	GJC2	57165	608804	Leukodystrophy, hypomyelinating, 2	C1837355	OMIM	53	37
HP:0001252	HP:0001319	Neonatal hypotonia	1	GLYCTK	132158	220120	Deficiency of glycerate kinase	C1291386	OMIM	3	6
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	GLYCTK	132158	220120	Deficiency of glycerate kinase	C1291386	OMIM	3	6
HP:0001252	HP:0001319	Neonatal hypotonia	1	GNPTAB	79158	252500	I cell disease	C2673377	OMIM	174	240
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	GPHN	10243	615501	Molybdenum cofactor deficiency, complementation group C	C1854990	OMIM	20	18
HP:0001252	HP:0001290	Generalized hypotonia	1	GPX4	2879	93317	Spondylometaphyseal dysplasia, Sedaghatian type		ORPHA	4	3
HP:0001252	HP:0001290	Generalized hypotonia	1	HERC2	8924	176270	Prader-Willi syndrome	C0032897	OMIM	4	38
HP:0001252	HP:0001319	Neonatal hypotonia	1	HNF1A	6927	324575	Hyperinsulinism due to HNF1A deficiency		ORPHA	519	161
HP:0001252	HP:0001319	Neonatal hypotonia	1	HNF4A	3172	263455	Hyperinsulinism due to HNF4A deficiency		ORPHA	149	138
HP:0001252	HP:0001319	Neonatal hypotonia	1	HSD17B4	3295	261515	Bifunctional peroxisomal enzyme deficiency	C0342870	OMIM	95	98
HP:0001252	HP:0006829	Severe muscular hypotonia	1	IBA57	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	C3809165	OMIM	10	16
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	IER3IP1	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	C3280240	OMIM	3	6
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	IFIH1	64135	615846	Aicardi-goutieres syndrome 7	C3888244	OMIM	20	28
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	INS	3630	606176	Permanent neonatal diabetes mellitus	C1833104	OMIM	76	62
HP:0001252	HP:0001290	Generalized hypotonia	1	IPW	3653	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0001319	Neonatal hypotonia	1	ITGA7	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	C2750786	OMIM	7	127
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	ITGA7	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	C2750786	OMIM	7	127
HP:0001252	HP:0001290	Generalized hypotonia	1	KANSL1	284058	610443	Koolen-de Vries syndrome	C1864871	OMIM	65	283
HP:0001252	HP:0001319	Neonatal hypotonia	1	KAT6A	7994	616268	Mental retardation, autosomal dominant 32	C4225396	OMIM	15	34
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	KCNJ11	3767	79134	DEND syndrome		ORPHA	175	127
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	KCNJ11	3767	606176	Permanent neonatal diabetes mellitus	C1833104	OMIM	175	127
HP:0001252	HP:0000297	Facial hypotonia	1	KDM5C	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	C1845243	OMIM	45	81
HP:0001252	HP:0001290	Generalized hypotonia	1	KIAA0586	9786	616546	Short-rib thoracic dysplasia 14 with polydactyly	C4225286	OMIM	28	24
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	KIAA2022	340533	300912	Mental retardation, X-linked 98	C3806730	OMIM	27
HP:0001252	HP:0001319	Neonatal hypotonia	1	KIAA2022	340533	85277	X-linked intellectual disability, Cantagrel type		ORPHA	27
HP:0001252	HP:0006829	Severe muscular hypotonia	1	KIF1A	547	2836	PEHO syndrome		ORPHA	33	276
HP:0001252	HP:0006829	Severe muscular hypotonia	1	LARGE1	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	C3150414	OMIM	22	136
HP:0001252	HP:0006829	Severe muscular hypotonia	1	LARGE1	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	CN033898	OMIM	22	136
HP:0001252	HP:0001290	Generalized hypotonia	1	LETM1	3954	194190	4p partial monosomy syndrome	C1956097	OMIM	3	2
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	LIPT1	51601	616299	Lipoyltransferase 1 deficiency	C4225379	OMIM	6	21
HP:0001252	HP:0006829	Severe muscular hypotonia	1	LMNA	4000	613205	Congenital muscular dystrophy, LMNA-related	C2750785	OMIM	495	645
HP:0001252	HP:0006829	Severe muscular hypotonia	1	LMOD3	56203	616165	Nemaline myopathy 10	C4015360	OMIM	15	11
HP:0001252	HP:0001319	Neonatal hypotonia	1	LYRM4	57128	615595	Combined oxidative phosphorylation deficiency 19	C3810055	OMIM	5	4
HP:0001252	HP:0001290	Generalized hypotonia	1	MAGEL2	54551	176270	Prader-Willi syndrome	C0032897	OMIM	13	63
HP:0001252	HP:0001319	Neonatal hypotonia	1	MAGEL2	54551	615547	Schaaf-yang syndrome	C3809877	OMIM	13	63
HP:0001252	HP:0000297	Facial hypotonia	1	MECP2	4204	300260	MECP2 duplication syndrome	C1846058	OMIM	960	950
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	MECP2	4204	300260	MECP2 duplication syndrome	C1846058	OMIM	960	950
HP:0001252	HP:0000297	Facial hypotonia	1	MECP2	4204	300055	Mental retardation, X-linked, syndromic 13	C1968550	OMIM	960	950
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	MECP2	4204	300673	Severe neonatal-onset encephalopathy with microcephaly	C1968556	OMIM	960	950
HP:0001252	HP:0001319	Neonatal hypotonia	1	MED12	9968	305450	FG syndrome	C0220769	OMIM	20	228
HP:0001252	HP:0001290	Generalized hypotonia	1	MED12	9968	309520	X-linked mental retardation with marfanoid habitus syndrome	C0796022	OMIM	20	228
HP:0001252	HP:0001319	Neonatal hypotonia	1	MEGF10	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	C3280679	OMIM	15	158
HP:0001252	HP:0001290	Generalized hypotonia	1	MGAT2	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	C0349654	OMIM	5	39
HP:0001252	HP:0001290	Generalized hypotonia	1	MKRN3	7681	176270	Prader-Willi syndrome	C0032897	OMIM	27	5
HP:0001252	HP:0001290	Generalized hypotonia	1	MKRN3-AS1	10108	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0001319	Neonatal hypotonia	1	MPZ	4359	605253	Congenital hypomyelinating neuropathy	C0393818	OMIM	237	134
HP:0001252	HP:0001319	Neonatal hypotonia	1	MRPS16	51021	610498	Combined oxidative phosphorylation deficiency 2	C1864843	OMIM	1	60
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	MRPS22	56945	611719	Combined oxidative phosphorylation deficiency 5	C2673642	OMIM	6	25
HP:0001252	HP:0006829	Severe muscular hypotonia	1	MTM1	4534	310400	Severe X-linked myotubular myopathy	C0410203	OMIM	289	185
HP:0001252	HP:0001319	Neonatal hypotonia	1	MUSK	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	C4225368	OMIM	17	72
HP:0001252	HP:0001319	Neonatal hypotonia	1	MYH7	4625	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	908	1269
HP:0001252	HP:0001290	Generalized hypotonia	1	MYO5A	4644	79476	Griscelli disease type 1		ORPHA	4	35
HP:0001252	HP:0001319	Neonatal hypotonia	1	NADK2	133686	616034	2,4-Dienoyl-CoA reductase deficiency	C1857252	OMIM	2	14
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	NALCN	259232	615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	C3809454	OMIM	31	48
HP:0001252	HP:0001290	Generalized hypotonia	1	NDN	4692	176270	Prader-Willi syndrome	C0032897	OMIM	1
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	NDUFB11	54539	300952	Linear skin defects with multiple congenital anomalies 3	C4225421	OMIM	6	3
HP:0001252	HP:0001319	Neonatal hypotonia	1	NEB	4703	256030	Nemaline myopathy 2	C1850569	OMIM	282	745
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	NECAP1	25977	615833	Early infantile epileptic encephalopathy 21	C4014430	OMIM	1	1
HP:0001252	HP:0001290	Generalized hypotonia	1	NPAP1	23742	176270	Prader-Willi syndrome	C0032897	OMIM		1
HP:0001252	HP:0001290	Generalized hypotonia	1	NRAS	4893	613224	Noonan syndrome 6	C2750732	OMIM	9	102
HP:0001252	HP:0001319	Neonatal hypotonia	1	NSD1	64324	117550	Sotos syndrome 1	CN035106	OMIM	468	544
HP:0001252	HP:0001290	Generalized hypotonia	1	NSD2	7468	194190	4p partial monosomy syndrome	C1956097	OMIM	7	118
HP:0001252	HP:0001290	Generalized hypotonia	1	NSDHL	50814	300831	NSDHL-Related Disorders	C3151781	OMIM	28	34
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	NSUN2	54888	611091	Mental retardation, autosomal recessive 5	C1970199	OMIM	7	84
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	OCLN	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	C3489725	OMIM	10	23
HP:0001252	HP:0001319	Neonatal hypotonia	1	OCRL	4952	534	Acute myeloblastic leukemia without maturation		ORPHA	253	88
HP:0001252	HP:0001319	Neonatal hypotonia	1	OCRL	4952	309000	Lowe syndrome	C0028860	OMIM	253	88
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PAFAH1B1	5048	607432	Lissencephaly 1	C1843916	OMIM	165	231
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PAM16	51025	613320	Spondylometaphyseal dysplasia, megarbane-dagher-melki type	C2750075	OMIM	2	1
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PCCA	5095	606054	Propionic acidemia	C0268579	OMIM	121	96
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PCCB	5096	606054	Propionic acidemia	C0268579	OMIM	111	92
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PCLO	27445	608027	Pontocerebellar hypoplasia type 3	C1842687	OMIM	3	6
HP:0001252	HP:0001319	Neonatal hypotonia	1	PCLO	27445	608027	Pontocerebellar hypoplasia type 3	C1842687	OMIM	3	6
HP:0001252	HP:0001290	Generalized hypotonia	1	PDHB	5162	614111	Pyruvate dehydrogenase E1-beta deficiency	C1867399	OMIM	13	37
HP:0001252	HP:0001319	Neonatal hypotonia	1	PDHX	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	C1855553	OMIM	22	98
HP:0001252	HP:0001319	Neonatal hypotonia	1	PDSS2	57107	614652	Coenzyme Q10 deficiency, primary, 3	C3553358	OMIM	3	54
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PDX1	3651	606176	Permanent neonatal diabetes mellitus	C1833104	OMIM	30	30
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX1	5189	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	123	169
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX1	5189	601539	Peroxisome biogenesis disorder 1B	CN168921	OMIM	123	169
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX10	5192	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	30	75
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX10	5192	614871	Peroxisome biogenesis disorder 6B	C3553948	OMIM	30	75
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX11B	8799	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	5	4
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX12	5193	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	34	65
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX13	5194	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	10	66
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	PEX13	5194	614883	Peroxisome biogenesis disorder 11A	C3554000	OMIM	10	66
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX14	5195	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	4	46
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX16	9409	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	12	59
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX16	9409	614877	Peroxisome biogenesis disorder 8B	C3553960	OMIM	12	59
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX19	5824	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	3	62
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX2	5828	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	18	82
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX2	5828	614867	Peroxisome biogenesis disorder 5B	C3542026	OMIM	18	82
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX26	55670	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	23	106
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX26	55670	614873	Peroxisome biogenesis disorder 7B	C3553951	OMIM	23	106
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX3	8504	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	7	47
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX5	5830	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	14	99
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PEX6	5190	912	Blepharoptosis myopia ectopia lentis	C1862259	ORPHA	104	98
HP:0001252	HP:0001319	Neonatal hypotonia	1	PEX6	5190	614863	Peroxisome biogenesis disorder 4B	C3553937	OMIM	104	98
HP:0001252	HP:0001319	Neonatal hypotonia	1	PGAP1	80055	615802	Mental retardation, autosomal recessive 42	C4014343	OMIM	9	20
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PIGA	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	C3275508	OMIM	16	46
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PIK3R2	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	C1863924	OMIM	6	12
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PLCB1	23236	613722	Early infantile epileptic encephalopathy 12	C3150988	OMIM	10	119
HP:0001252	HP:0001319	Neonatal hypotonia	1	PLOD1	5351	1900	Ehlers-Danlos syndrome, kyphoscoliotic type		ORPHA	38	105
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PNPO	55163	610090	Pyridoxal 5'-phosphate-dependent epilepsy	C1864723	OMIM	28	92
HP:0001252	HP:0006829	Severe muscular hypotonia	1	PNPT1	87178	614932	Combined oxidative phosphorylation deficiency 13	C3554129	OMIM	6	60
HP:0001252	HP:0001290	Generalized hypotonia	1	POGZ	23126	616364	White-sutton syndrome	C4225351	OMIM	47	35
HP:0001252	HP:0001290	Generalized hypotonia	1	POMGNT1	55624	253280	Muscle eye brain disease	C0457133	OMIM	73	180
HP:0001252	HP:0006829	Severe muscular hypotonia	1	POMGNT1	55624	253280	Muscle eye brain disease	C0457133	OMIM	73	180
HP:0001252	HP:0001319	Neonatal hypotonia	1	POMK	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	C3808964	OMIM	6	18
HP:0001252	HP:0001319	Neonatal hypotonia	1	POMK	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	C4015184	OMIM	6	18
HP:0001252	HP:0006829	Severe muscular hypotonia	1	POMT1	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	CN033898	OMIM	83	213
HP:0001252	HP:0006829	Severe muscular hypotonia	1	POMT2	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	C3150411	OMIM	51	221
HP:0001252	HP:0006829	Severe muscular hypotonia	1	POMT2	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	CN033898	OMIM	51	221
HP:0001252	HP:0001290	Generalized hypotonia	1	PPP2R5D	5528	616355	Mental retardation, autosomal dominant 35	C4225354	OMIM	9	10
HP:0001252	HP:0001319	Neonatal hypotonia	1	PRPS1	5631	301835	Arts syndrome	C0796028	OMIM	27	49
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PTS	5805	261640	6-pyruvoyl-tetrahydropterin synthase deficiency	C0878676	OMIM	88	19
HP:0001252	HP:0001319	Neonatal hypotonia	1	PURA	5813	616158	Mental retardation, autosomal dominant 31	C4015357	OMIM	25	53
HP:0001252	HP:0001290	Generalized hypotonia	1	PWAR1	145624	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0001290	Generalized hypotonia	1	PWRN1	791114	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	PYCR2	29920	616420	Leukodystrophy, hypomyelinating, 10	C4225332	OMIM	12	11
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	RAB18	22931	614222	Warburg micro syndrome 3	C3280203	OMIM	5	85
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	RAB3GAP2	25782	614225	Warburg micro syndrome 2	C3280214	OMIM	11	135
HP:0001252	HP:0001290	Generalized hypotonia	1	RAI1	10743	182290	Smith-Magenis syndrome	C0795864	OMIM	107	150
HP:0001252	HP:0001319	Neonatal hypotonia	1	RAPSN	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	C1837094	OMIM	58	73
HP:0001252	HP:0006829	Severe muscular hypotonia	1	RMND1	55005	614922	Combined oxidative phosphorylation deficiency 11	C3554067	OMIM	15	26
HP:0001252	HP:0001319	Neonatal hypotonia	1	RYR1	6261	117000	Central core disease	C0751951	OMIM	602	1200
HP:0001252	HP:0001319	Neonatal hypotonia	1	RYR1	6261	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	602	1200
HP:0001252	HP:0001319	Neonatal hypotonia	1	RYR1	6261	255320	Minicore myopathy with external ophthalmoplegia	C1850674	OMIM	602	1200
HP:0001252	HP:0001290	Generalized hypotonia	1	SBDS	51119	811	Balo disease		ORPHA	88	26
HP:0001252	HP:0001319	Neonatal hypotonia	1	SDHA	6389	252011	Mitochondrial complex II deficiency	C1855008	OMIM	44	304
HP:0001252	HP:0001319	Neonatal hypotonia	1	SDHAF1	644096	252011	Mitochondrial complex II deficiency	C1855008	OMIM	6	16
HP:0001252	HP:0001319	Neonatal hypotonia	1	SDHD	6392	252011	Mitochondrial complex II deficiency	C1855008	OMIM	161	129
HP:0001252	HP:0001319	Neonatal hypotonia	1	SELENON	57190	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	59	144
HP:0001252	HP:0001290	Generalized hypotonia	1	SERPINH1	871	613848	Osteogenesis imperfecta type 10	C3151211	OMIM	5	52
HP:0001252	HP:0001319	Neonatal hypotonia	1	SH2B1	25970	261222	Distal 16p11.2 microdeletion syndrome		ORPHA	15
HP:0001252	HP:0001319	Neonatal hypotonia	1	SHANK3	85358	606232	22q13.3 deletion syndrome	C1853490	OMIM	171	53
HP:0001252	HP:0001290	Generalized hypotonia	1	SHANK3	85358	606232	22q13.3 deletion syndrome	C1853490	OMIM	171	53
HP:0001252	HP:0001319	Neonatal hypotonia	1	SHANK3	85358	48652	Monosomy 22q13		ORPHA	171	53
HP:0001252	HP:0001290	Generalized hypotonia	1	SLC12A6	9990	218000	Andermann syndrome	C0795950	OMIM	18	163
HP:0001252	HP:0001319	Neonatal hypotonia	1	SLC12A6	9990	218000	Andermann syndrome	C0795950	OMIM	18	163
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SLC13A5	284111	615905	Epileptic encephalopathy, early infantile, 25	C4014621	OMIM	17	73
HP:0001252	HP:0001319	Neonatal hypotonia	1	SLC16A2	6567	300523	Allan-Herndon-Dudley syndrome	C0795889	OMIM	81	57
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SLC18A2	6571	352649	Brain dopamine-serotonin vesicular transport disease		ORPHA	5	2
HP:0001252	HP:0001290	Generalized hypotonia	1	SLC18A2	6571	352649	Brain dopamine-serotonin vesicular transport disease		ORPHA	5	2
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SLC19A3	80704	607483	Basal ganglia disease, biotin-responsive	C1843807	OMIM	24	110
HP:0001252	HP:0006829	Severe muscular hypotonia	1	SLC25A1	6576	615182	Combined d-2- and l-2-hydroxyglutaric aciduria	C2746066	OMIM	16	28
HP:0001252	HP:0006829	Severe muscular hypotonia	1	SLC25A12	8604	612949	Hypomyelination, global cerebral	C2751855	OMIM	4	44
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SLC25A19	60386	607196	Amish lethal microcephaly	C1846648	OMIM	2	36
HP:0001252	HP:0001319	Neonatal hypotonia	1	SLC25A22	79751	609304	Early myoclonic encephalopathy	C0270855	OMIM	9	166
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SLC6A3	6531	613135	Infantile Parkinsonism-dystonia	C2751067	OMIM	46	13
HP:0001252	HP:0001319	Neonatal hypotonia	1	SLC6A8	6535	300352	Creatine deficiency, X-linked	C1845862	OMIM	127	122
HP:0001252	HP:0001290	Generalized hypotonia	1	SNORD115-1	338433	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0001290	Generalized hypotonia	1	SNORD116-1	100033413	176270	Prader-Willi syndrome	C0032897	OMIM
HP:0001252	HP:0001290	Generalized hypotonia	1	SNRPN	6638	176270	Prader-Willi syndrome	C0032897	OMIM	22	37
HP:0001252	HP:0001319	Neonatal hypotonia	1	SOX10	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	C1836727	OMIM	130	61
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SOX10	6663	611584	Waardenburg syndrome type 2E	C2700405	OMIM	130	61
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SPATA5	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	C4225276	OMIM	21	19
HP:0001252	HP:0006829	Severe muscular hypotonia	1	SPEG	10290	615959	Myopathy, centronuclear, 5	C4014814	OMIM	6	20
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	SPR	6697	612716	Sepiapterin reductase deficiency	C0268468	OMIM	22	28
HP:0001252	HP:0001290	Generalized hypotonia	1	SSR4	6748	370927	SSR4-CDG		ORPHA	6	12
HP:0001252	HP:0001290	Generalized hypotonia	1	STT3A	3703	370921	STT3A-CDG		ORPHA	1	21
HP:0001252	HP:0001290	Generalized hypotonia	1	STT3B	201595	370924	STT3B-CDG		ORPHA	2	18
HP:0001252	HP:0001319	Neonatal hypotonia	1	SUMF1	285362	585	Al Gazali Hirschsprung syndrome	C1856110	ORPHA	51	80
HP:0001252	HP:0001319	Neonatal hypotonia	1	SUMF1	285362	272200	Multiple sulfatase deficiency	C0268263	OMIM	51	80
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	SUOX	6821	272300	Sulfite oxidase deficiency	C0268624	OMIM	26	40
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	TARS2	80222	615918	Combined oxidative phosphorylation deficiency 21	C4014668	OMIM	2	28
HP:0001252	HP:0001319	Neonatal hypotonia	1	TBR1	10716	1617	2q24 microdeletion syndrome		ORPHA	16	1
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	TH	7054	605407	Segawa syndrome, autosomal recessive	C1854299	OMIM	67	80
HP:0001252	HP:0001319	Neonatal hypotonia	1	TPM2	7169	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	38	54
HP:0001252	HP:0001319	Neonatal hypotonia	1	TPM3	7170	255310	Congenital myopathy with fiber type disproportion	C0546264	OMIM	27	108
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	TREX1	11277	225750	Aicardi Goutieres syndrome 1	C0796126	OMIM	65	56
HP:0001252	HP:0001290	Generalized hypotonia	1	TRHR	7201	99832	Resistance to thyrotropin-releasing hormone syndrome		ORPHA	5	2
HP:0001252	HP:0001290	Generalized hypotonia	1	TRIM2	23321	615490	Charcot-Marie-Tooth disease, axonal, type 2R	C3809655	OMIM	8	3
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	TRPS1	7227	190350	Trichorhinophalangeal dysplasia type I	C0432233	OMIM	136	171
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	TSEN2	80746	612389	Pontocerebellar hypoplasia type 2B	C2676466	OMIM	4	84
HP:0001252	HP:0001319	Neonatal hypotonia	1	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43
HP:0001252	HP:0001319	Neonatal hypotonia	1	TUBA8	51807	613180	Polymicrogyria with optic nerve hypoplasia	C2750798	OMIM	1	21
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	TUBB3	10381	614039	Cortical dysplasia, complex, with other brain malformations 1	C3279670	OMIM	24	64
HP:0001252	HP:0006829	Severe muscular hypotonia	1	UBA1	7317	301830	Arthrogryposis multiplex congenita, distal, X-linked	C1844934	OMIM	4	35
HP:0001252	HP:0008947	Infantile muscular hypotonia	1	UGT1A1	54658	79234	Crigler-Najjar syndrome type 1		ORPHA	144	73
HP:0001252	HP:0001319	Neonatal hypotonia	1	UPB1	51733	613161	Deficiency of beta-ureidopropionase	C1291512	OMIM	17	44
HP:0001252	HP:0001319	Neonatal hypotonia	1	UQCC2	84300	615824	Mitochondrial complex III deficiency, nuclear type 7	C4014408	OMIM	1	7
HP:0001252	HP:0000297	Facial hypotonia	1	VPS13B	157680	216550	Cohen syndrome	C0265223	OMIM	188	546
HP:0001252	HP:0001319	Neonatal hypotonia	1	VPS13B	157680	216550	Cohen syndrome	C0265223	OMIM	188	546
HP:0001252	HP:0001319	Neonatal hypotonia	1	VPS53	55275	615851	Pontocerebellar hypoplasia, type 2e	C4014488	OMIM	5	26
HP:0001252	HP:0008936	Muscular hypotonia of the trunk	1	WWOX	51741	616211	Epileptic encephalopathy, early infantile, 28	C4015519	OMIM	39	149
HP:0001252	HP:0000297	Facial hypotonia	1	XYLT2	64132	85194	Spondylo-ocular syndrome		ORPHA	5	5
HP:0001252	HP:0006829	Severe muscular hypotonia	1	ZDHHC15	158866	300577	Mental retardation 91, X-linked	C1845142	OMIM	1	10
HP:0001252	HP:0006830	Severe neonatal hypotonia in males	2
HP:0001252	HP:0006852	Episodic generalized hypotonia	2	ATP1A3	478	601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss	C1832466	OMIM	100	150
HP:0001252	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	2	CHAT	1103	254210	Familial infantile myasthenia	C0393929	OMIM	68	65
HP:0001252	HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	2	CHRNE	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	C1853949	OMIM	126	139
HP:0001252	HP:0009062	Infantile axial hypotonia	2	HSD17B10	3028	300220