Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	97240				ORPHA	1	506	129	102610
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	171436				ORPHA	1	506	129	102610
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0001319	HP:0001319	Neonatal hypotonia	0	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1	244	32456	613666
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	403	572	607245
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	509	573	607244
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	429	574	602296
HP:0001319	HP:0001319	Neonatal hypotonia	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	810	18060	300382
HP:0001319	HP:0001319	Neonatal hypotonia	0	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	352	816	300014
HP:0001319	HP:0001319	Neonatal hypotonia	0	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0001319	HP:0001319	Neonatal hypotonia	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0001319	HP:0001319	Neonatal hypotonia	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	1182	1097	164757
HP:0001319	HP:0001319	Neonatal hypotonia	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	550	18806	611501
HP:0001319	HP:0001319	Neonatal hypotonia	0	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	550	18806	611501
HP:0001319	HP:0001319	Neonatal hypotonia	0	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0001319	HP:0001319	Neonatal hypotonia	0	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	838	25523	609736
HP:0001319	HP:0001319	Neonatal hypotonia	0	CFL2 CL E G H	1073	171436				ORPHA	1	167	1875	601443
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0001319	HP:0001319	Neonatal hypotonia	0	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001319	HP:0001319	Neonatal hypotonia	0	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	582	2171	600016
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0001319	HP:0001319	Neonatal hypotonia	0	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	291	19693	612898
HP:0001319	HP:0001319	Neonatal hypotonia	0	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	876	2330	600650
HP:0001319	HP:0001319	Neonatal hypotonia	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0001319	HP:0001319	Neonatal hypotonia	0	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001319	HP:0001319	Neonatal hypotonia	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0001319	HP:0001319	Neonatal hypotonia	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	575	3192	602959
HP:0001319	HP:0001319	Neonatal hypotonia	0	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	575	3192	602959
HP:0001319	HP:0001319	Neonatal hypotonia	0	EGR2 CL E G H	1959	605253	Congenital hypomyelinating neuropathy	605253	C0393818	OMIM	1	373	3239	129010
HP:0001319	HP:0001319	Neonatal hypotonia	0	ERCC6L2 CL E G H	375748	615715	Bone marrow failure syndrome 2	615715	C3810350	OMIM	1	655	26922	615667
HP:0001319	HP:0001319	Neonatal hypotonia	0	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	936	3688	136350
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0001319	HP:0001319	Neonatal hypotonia	0	FLNA CL E G H	2316	300321	FG syndrome 2	300321	C1845902	OMIM	1	3033	3754	300017
HP:0001319	HP:0001319	Neonatal hypotonia	0	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0001319	HP:0001319	Neonatal hypotonia	0	GATAD2B CL E G H	57459	615074	Mental retardation, autosomal dominant 18	615074	C3554448	OMIM	1	410	30778	614998
HP:0001319	HP:0001319	Neonatal hypotonia	0	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001319	HP:0001319	Neonatal hypotonia	0	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1236	29670	607840
HP:0001319	HP:0001319	Neonatal hypotonia	0	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0001319	HP:0001319	Neonatal hypotonia	0	HADH CL E G H	3033	71212				ORPHA	1	229	4799	601609
HP:0001319	HP:0001319	Neonatal hypotonia	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0001319	HP:0001319	Neonatal hypotonia	0	HIST1H1E CL E G H	3008	617537	RAHMAN SYNDROME	617537	C4479637	OMIM	1		4718	142220
HP:0001319	HP:0001319	Neonatal hypotonia	0	HNF1A CL E G H	6927	324575				ORPHA	1	821	11621	142410
HP:0001319	HP:0001319	Neonatal hypotonia	0	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	509	5024	600281
HP:0001319	HP:0001319	Neonatal hypotonia	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0001319	HP:0001319	Neonatal hypotonia	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0001319	HP:0001319	Neonatal hypotonia	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0001319	HP:0001319	Neonatal hypotonia	0	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0001319	HP:0001319	Neonatal hypotonia	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0001319	HP:0001319	Neonatal hypotonia	0	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0001319	HP:0001319	Neonatal hypotonia	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0001319	HP:0001319	Neonatal hypotonia	0	KLHL41 CL E G H	10324	171436				ORPHA	1	294	16905	607701
HP:0001319	HP:0001319	Neonatal hypotonia	0	LMOD3 CL E G H	56203	171436				ORPHA	1	392	6649	616112
HP:0001319	HP:0001319	Neonatal hypotonia	0	LYRM4 CL E G H	57128	615595	Combined oxidative phosphorylation deficiency 19	615595	C3810055	OMIM	1	167	21365	613311
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	272	6783	159460
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	1013	6814	605283
HP:0001319	HP:0001319	Neonatal hypotonia	0	MED12 CL E G H	9968	305450	FG syndrome	305450	C0220769	OMIM	1	1573	11957	300188
HP:0001319	HP:0001319	Neonatal hypotonia	0	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	969	29634	612453
HP:0001319	HP:0001319	Neonatal hypotonia	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0001319	HP:0001319	Neonatal hypotonia	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0001319	HP:0001319	Neonatal hypotonia	0	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	96	14048	609204
HP:0001319	HP:0001319	Neonatal hypotonia	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0001319	HP:0001319	Neonatal hypotonia	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0001319	HP:0001319	Neonatal hypotonia	0	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001319	HP:0001319	Neonatal hypotonia	0	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	221	26404	615787
HP:0001319	HP:0001319	Neonatal hypotonia	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEB CL E G H	4703	171436				ORPHA	1	8530	7720	161650
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEXMIF CL E G H	340533	85277				ORPHA	1	990	29433	300524
HP:0001319	HP:0001319	Neonatal hypotonia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	243	7871	300084
HP:0001319	HP:0001319	Neonatal hypotonia	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0001319	HP:0001319	Neonatal hypotonia	0	NSD1 CL E G H	64324	117550	Sotos syndrome 1	117550	CN035106	OMIM	1	1734	14234	606681
HP:0001319	HP:0001319	Neonatal hypotonia	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	643	8108	300535
HP:0001319	HP:0001319	Neonatal hypotonia	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	643	8108	300535
HP:0001319	HP:0001319	Neonatal hypotonia	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	2430	13406	604918
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	372	21350	608769
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDSS2 CL E G H	57107	614652	Coenzyme Q10 deficiency, primary, 3	614652	C3553358	OMIM	1	224	23041	610564
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	803	8851	602859
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	470	8857	603360
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX26 CL E G H	55670	614873	Peroxisome biogenesis disorder 7B	614873	C3553951	OMIM	1	522	22965	608666
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0001319	HP:0001319	Neonatal hypotonia	0	PGAP1 CL E G H	80055	615802	Mental retardation, autosomal recessive 42	615802	C4014343	OMIM	1	379	25712	611655
HP:0001319	HP:0001319	Neonatal hypotonia	0	PLOD1 CL E G H	5351	1900				ORPHA	1	931	9081	153454
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0001319	HP:0001319	Neonatal hypotonia	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001319	HP:0001319	Neonatal hypotonia	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	459	9701	600473
HP:0001319	HP:0001319	Neonatal hypotonia	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0001319	HP:0001319	Neonatal hypotonia	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0001319	HP:0001319	Neonatal hypotonia	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	178145				ORPHA	1	6164	10483	180901
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	117000	117000	117000		OMIM	1	6164	10483	180901
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0001319	HP:0001319	Neonatal hypotonia	0	SCN4A CL E G H	6329	684				ORPHA	1	1765	10591	603967
HP:0001319	HP:0001319	Neonatal hypotonia	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0001319	HP:0001319	Neonatal hypotonia	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0001319	HP:0001319	Neonatal hypotonia	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0001319	HP:0001319	Neonatal hypotonia	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0001319	HP:0001319	Neonatal hypotonia	0	SH2B1 CL E G H	25970	261222				ORPHA	1	279	30417	608937
HP:0001319	HP:0001319	Neonatal hypotonia	0	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0001319	HP:0001319	Neonatal hypotonia	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC25A22 CL E G H	79751	609304	Early myoclonic encephalopathy	609304	C0270855	OMIM	1	551	19954	609302
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0001319	HP:0001319	Neonatal hypotonia	0	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0001319	HP:0001319	Neonatal hypotonia	0	SUMF1 CL E G H	285362	585				ORPHA	1	746	20376	607939
HP:0001319	HP:0001319	Neonatal hypotonia	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	746	20376	607939
HP:0001319	HP:0001319	Neonatal hypotonia	0	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	141	11540	602955
HP:0001319	HP:0001319	Neonatal hypotonia	0	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001319	HP:0001319	Neonatal hypotonia	0	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	551	11769	190230
HP:0001319	HP:0001319	Neonatal hypotonia	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	75	18188	614123
HP:0001319	HP:0001319	Neonatal hypotonia	0	TNNT1 CL E G H	7138	98902				ORPHA	1	372	11948	191041
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM2 CL E G H	7169	171436				ORPHA	1	341	12011	190990
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0001319	HP:0001319	Neonatal hypotonia	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001319	HP:0001319	Neonatal hypotonia	0	TUBA8 CL E G H	51807	613180	Polymicrogyria with optic nerve hypoplasia	613180	C2750798	OMIM	1	321	12410	605742
HP:0001319	HP:0001319	Neonatal hypotonia	0	TUFM CL E G H	7284	610678	Combined oxidative phosphorylation deficiency 4	610678	C1857682	OMIM	1	323	12420	602389
HP:0001319	HP:0001319	Neonatal hypotonia	0	UPB1 CL E G H	51733	613161	Deficiency of beta-ureidopropionase	613161	C1291512	OMIM	1	271	16297	606673
HP:0001319	HP:0001319	Neonatal hypotonia	0	UQCC2 CL E G H	84300	615824	Mitochondrial complex III deficiency, nuclear type 7	615824	C4014408	OMIM	1	64	21237	614461
HP:0001319	HP:0001319	Neonatal hypotonia	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0001319	HP:0001319	Neonatal hypotonia	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	359	25608	615850
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ACOX1 CL E G H	51	264470	Pseudoneonatal adrenoleukodystrophy	264470	C1849678	OMIM	1	665	119	609751
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ACTA1 CL E G H	58	97240				ORPHA	1	506	129	102610
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ACTA1 CL E G H	58	171436				ORPHA	1	506	129	102610
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	506	129	102610
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ALG11 CL E G H	440138	613661	Congenital disorder of glycosylation type 1P	613661	C3150913	OMIM	1	244	32456	613666
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	AP4B1 CL E G H	10717	614066	Spastic paraplegia 47, autosomal recessive	614066	C3279738	OMIM	1	403	572	607245
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	509	573	607244
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	AP4M1 CL E G H	9179	612936	Spastic paraplegia 50, autosomal recessive	612936	C2752008	OMIM	1	429	574	602296
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	810	18060	300382
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ATP2B3 CL E G H	492	302500	Spinocerebellar ataxia, X-linked 1	302500	C0796205	OMIM	1	352	816	300014
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ATXN7 CL E G H	6314	94147				ORPHA	1	98	10560	607640
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	1182	1097	164757
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CAMTA1 CL E G H	23261	314647				ORPHA	1	550	18806	611501
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CAMTA1 CL E G H	23261	614756	Cerebellar ataxia, nonprogressive, with mental retardation	614756	C3553661	OMIM	1	550	18806	611501
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CCDC174 CL E G H	51244	616816	Hypotonia, infantile, with psychomotor retardation	616816	C4225196	OMIM	1	87	28033	616735
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CCDC88A CL E G H	55704	617507	PEHO-like syndrome	617507	C1850056	OMIM	1	838	25523	609736
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CFL2 CL E G H	1073	171436				ORPHA	1	167	1875	601443
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	502	1938	612395
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRNB1 CL E G H	1140	616314	Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency	616314	C4225373	OMIM	1	454	1961	100710
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CLPB CL E G H	81570	616271	3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	616271	C4225393	OMIM	1	585	30664	616254
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	582	2171	600016
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL12A1 CL E G H	1303	610	Alopecia macular degeneration growth retardation			ORPHA	1	2548	2188	120320
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A1 CL E G H	1291	610	Alopecia macular degeneration growth retardation			ORPHA	1	1718	2211	120220
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1718	2211	120220
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A1 CL E G H	1291	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1718	2211	120220
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A2 CL E G H	1292	610	Alopecia macular degeneration growth retardation			ORPHA	1	1928	2212	120240
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1928	2212	120240
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A2 CL E G H	1292	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	1928	2212	120240
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A3 CL E G H	1293	610	Alopecia macular degeneration growth retardation			ORPHA	1	3001	2213	120250
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	3001	2213	120250
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COL6A3 CL E G H	1293	254090	Ullrich congenital muscular dystrophy 1	254090	CN033863	OMIM	1	3001	2213	120250
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	1	291	19693	612898
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CPT2 CL E G H	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	608836	C1833518	OMIM	1	876	2330	600650
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	DST CL E G H	667	614653	Neuropathy, hereditary sensory and autonomic, type VI	614653	C3539003	OMIM	1	3546	1090	113810
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	575	3192	602959
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	EEF1A2 CL E G H	1917	616393	Mental retardation, autosomal dominant 38	616393	C4225343	OMIM	1	575	3192	602959
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	EGR2 CL E G H	1959	605253	Congenital hypomyelinating neuropathy	605253	C0393818	OMIM	1	373	3239	129010
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ERCC6L2 CL E G H	375748	615715	Bone marrow failure syndrome 2	615715	C3810350	OMIM	1	655	26922	615667
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FGFR1 CL E G H	2260	615465	Hartsfield syndrome	615465	C1845146	OMIM	1	936	3688	136350
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FKRP CL E G H	79147	370980				ORPHA	1	950	17997	606596
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	950	17997	606596
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FKTN CL E G H	2218	370980				ORPHA	1	914	3622	607440
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FLNA CL E G H	2316	300321	FG syndrome 2	300321	C1845902	OMIM	1	3033	3754	300017
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FOXG1 CL E G H	2290	613454	Rett syndrome, congenital variant	613454	C3150705	OMIM	1	725	3811	164874
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GATAD2B CL E G H	57459	615074	Mental retardation, autosomal dominant 18	615074	C3554448	OMIM	1	410	30778	614998
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GLYCTK CL E G H	132158	220120	Deficiency of glycerate kinase	220120	C1291386	OMIM	1	166	24247	610516
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GNPTAB CL E G H	79158	252500	I cell disease	252500	C2673377	OMIM	1	1236	29670	607840
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GRIA4 CL E G H	2893	617864	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES	617864	CN800195	OMIM	1	129	4574	138246
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HADH CL E G H	3033	71212				ORPHA	1	229	4799	601609
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	936	4868	605837
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HIST1H1E CL E G H	3008	617537	RAHMAN SYNDROME	617537	C4479637	OMIM	1		4718	142220
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HNF1A CL E G H	6927	324575				ORPHA	1	821	11621	142410
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HNF4A CL E G H	3172	263455	Hyperinsulinism due to HNF4A deficiency		CN202290	ORPHA	1	509	5024	600281
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	983	5213	601860
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	302	6109	601491
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ISPD CL E G H	729920	370980				ORPHA	1	733	37276	614631
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	898	6143	600536
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	KLHL41 CL E G H	10324	171436				ORPHA	1	294	16905	607701
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	LMOD3 CL E G H	56203	171436				ORPHA	1	392	6649	616112
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	LYRM4 CL E G H	57128	615595	Combined oxidative phosphorylation deficiency 19	615595	C3810055	OMIM	1	167	21365	613311
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MAG CL E G H	4099	616680	Spastic paraplegia 75, autosomal recessive	616680	C4225250	OMIM	1	272	6783	159460
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	1013	6814	605283
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	1013	6814	605283
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MED12 CL E G H	9968	305450	FG syndrome	305450	C0220769	OMIM	1	1573	11957	300188
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MEGF10 CL E G H	84466	614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	614399	C3280679	OMIM	1	969	29634	612453
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	357	7114	603856
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		12910	603857
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MRPS16 CL E G H	51021	610498	Combined oxidative phosphorylation deficiency 2	610498	C1864843	OMIM	1	96	14048	609204
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NADK2 CL E G H	133686	616034	2,4-Dienoyl-CoA reductase deficiency	616034	C1857252	OMIM	1	221	26404	615787
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	328	7675	602117
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NEB CL E G H	4703	171436				ORPHA	1	8530	7720	161650
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	8530	7720	161650
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NEXMIF CL E G H	340533	85277				ORPHA	1	990	29433	300524
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	243	7871	300084
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	387	1190	610922
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	NSD1 CL E G H	64324	117550	Sotos syndrome 1	117550	CN035106	OMIM	1	1734	14234	606681
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	643	8108	300535
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	643	8108	300535
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	2430	13406	604918
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PDHX CL E G H	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	245349	C1855553	OMIM	1	372	21350	608769
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PDSS2 CL E G H	57107	614652	Coenzyme Q10 deficiency, primary, 3	614652	C3553358	OMIM	1	224	23041	610564
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX1 CL E G H	5189	601539	Peroxisome biogenesis disorder 1B	601539	CN168921	OMIM	1	1537	8850	602136
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	803	8851	602859
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	470	8857	603360
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	463	9717	170993
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX26 CL E G H	55670	614873	Peroxisome biogenesis disorder 7B	614873	C3553951	OMIM	1	522	22965	608666
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	1458	8859	601498
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PGAP1 CL E G H	80055	615802	Mental retardation, autosomal recessive 42	615802	C4014343	OMIM	1	379	25712	611655
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PLOD1 CL E G H	5351	1900				ORPHA	1	931	9081	153454
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	307	26267	615247
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	307	26267	615247
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	POMT1 CL E G H	10585	370980				ORPHA	1	906	9202	607423
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	415	9462	311850
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	459	9701	600473
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	303	30089	600161
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	314	33235	611215
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	RYR1 CL E G H	6261	178145				ORPHA	1	6164	10483	180901
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	RYR1 CL E G H	6261	117000	117000	117000		OMIM	1	6164	10483	180901
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SCN4A CL E G H	6329	684				ORPHA	1	1765	10591	603967
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SH2B1 CL E G H	25970	261222				ORPHA	1	279	30417	608937
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SLC16A2 CL E G H	6567	300523	Allan-Herndon-Dudley syndrome	300523	C0795889	OMIM	1	427	10923	300095
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SLC25A22 CL E G H	79751	609304	Early myoclonic encephalopathy	609304	C0270855	OMIM	1	551	19954	609302
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33020	609837
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	305	33067	605436
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	396	11164	182279
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SOX10 CL E G H	6663	609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	609136	C1836727	OMIM	1	378	11190	602229
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SUMF1 CL E G H	285362	585				ORPHA	1	746	20376	607939
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	746	20376	607939
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TAF6 CL E G H	6878	617126	Alazami-Yuan syndrome	617126	C4310702	OMIM	1	141	11540	602955
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TBR1 CL E G H	10716	1617				ORPHA	1	223	11590	604616
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	1	551	11769	190230
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	75	18188	614123
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TNNT1 CL E G H	7138	98902				ORPHA	1	372	11948	191041
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TPM2 CL E G H	7169	171436				ORPHA	1	341	12011	190990
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	434	12367	604723
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TUBA8 CL E G H	51807	613180	Polymicrogyria with optic nerve hypoplasia	613180	C2750798	OMIM	1	321	12410	605742
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TUFM CL E G H	7284	610678	Combined oxidative phosphorylation deficiency 4	610678	C1857682	OMIM	1	323	12420	602389
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	UPB1 CL E G H	51733	613161	Deficiency of beta-ureidopropionase	613161	C1291512	OMIM	1	271	16297	606673
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	UQCC2 CL E G H	84300	615824	Mitochondrial complex III deficiency, nuclear type 7	615824	C4014408	OMIM	1	64	21237	614461
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	359	25608	615850
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001319	HP:0001319	Neonatal hypotonia	0	ARID1B CL E G H	57492	251056				ORPHA	0	1759	18040	614556
HP:0001319	HP:0001319	Neonatal hypotonia	0	BCS1L CL E G H	617	603358	GRACILE syndrome	603358	C1864002	OMIM	0	413	1020	603647
HP:0001319	HP:0001319	Neonatal hypotonia	0	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	0	844	1497	300172
HP:0001319	HP:0001319	Neonatal hypotonia	0	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0001319	HP:0001319	Neonatal hypotonia	0	GATA6 CL E G H	2627	2255	Familial non-immune hyperthyroidism			ORPHA	0	496	4174	601656
HP:0001319	HP:0001319	Neonatal hypotonia	0	LAMA2 CL E G H	3908	258	Schmitt Gillenwater Kelly syndrome			ORPHA	0	4179	6482	156225
HP:0001319	HP:0001319	Neonatal hypotonia	0	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001319	HP:0001319	Neonatal hypotonia	0	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0001319	HP:0001319	Neonatal hypotonia	0	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	0	978	26270	613629
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0001319	HP:0001319	Neonatal hypotonia	0	PRDM5 CL E G H	11107	90354				ORPHA	0	444	9349	614161
HP:0001319	HP:0001319	Neonatal hypotonia	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0001319	HP:0001319	Neonatal hypotonia	0	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	0	1765	10591	603967
HP:0001319	HP:0001319	Neonatal hypotonia	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	0	254	22082	300913
HP:0001319	HP:0001319	Neonatal hypotonia	0	ZNF469 CL E G H	84627	90354				ORPHA	0	3163	23216	612078
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ARID1B CL E G H	57492	251056				ORPHA	0	1759	18040	614556
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	BCS1L CL E G H	617	603358	GRACILE syndrome	603358	C1864002	OMIM	0	413	1020	603647
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	CASK CL E G H	8573	300422	FG syndrome 4	300422	CN033933	OMIM	0	844	1497	300172
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	DNAJC19 CL E G H	131118	66634				ORPHA	0	142	30528	608977
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GATA6 CL E G H	2627	2255	Familial non-immune hyperthyroidism			ORPHA	0	496	4174	601656
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	LAMA2 CL E G H	3908	258	Schmitt Gillenwater Kelly syndrome			ORPHA	0	4179	6482	156225
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	LMNA CL E G H	4000	264				ORPHA	0	1814	6636	150330
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MT-TE CL E G H	4556	2596	Hantavirosis			ORPHA	0		7479	590025
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PIEZO2 CL E G H	63895	617146	Arthrogryposis, distal, with impaired proprioception and touch	617146	C4310692	OMIM	0	978	26270	613629
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	POMT1 CL E G H	10585	86812				ORPHA	0	906	9202	607423
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PRDM5 CL E G H	11107	90354				ORPHA	0	444	9349	614161
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SCN4A CL E G H	6329	168300	Paramyotonia congenita of von Eulenburg	168300	C0221055	OMIM	0	1765	10591	603967
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	0	254	22082	300913
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ZNF469 CL E G H	84627	90354				ORPHA	0	3163	23216	612078