Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	96
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	96
HP:0001319	HP:0001319	Neonatal hypotonia	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0001319	HP:0001319	Neonatal hypotonia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0001319	HP:0001319	Neonatal hypotonia	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0001319	HP:0001319	Neonatal hypotonia	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0001319	HP:0001319	Neonatal hypotonia	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0001319	HP:0001319	Neonatal hypotonia	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0001319	HP:0001319	Neonatal hypotonia	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1	.	19
HP:0001319	HP:0001319	Neonatal hypotonia	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0001319	HP:0001319	Neonatal hypotonia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0001319	HP:0001319	Neonatal hypotonia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0001319	HP:0001319	Neonatal hypotonia	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0001319	HP:0001319	Neonatal hypotonia	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.	99
HP:0001319	HP:0001319	Neonatal hypotonia	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0001319	HP:0001319	Neonatal hypotonia	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3		276
HP:0001319	HP:0001319	Neonatal hypotonia	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0001319	HP:0001319	Neonatal hypotonia	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0001319	HP:0001319	Neonatal hypotonia	0	CASK CL E G H	8573	1497	OMIM:300422	FG SYNDROME 4; FGS4		118
HP:0001319	HP:0001319	Neonatal hypotonia	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0001319	HP:0001319	Neonatal hypotonia	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	35
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.	88
HP:0001319	HP:0001319	Neonatal hypotonia	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.	139
HP:0001319	HP:0001319	Neonatal hypotonia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia	.	38
HP:0001319	HP:0001319	Neonatal hypotonia	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0001319	HP:0001319	Neonatal hypotonia	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0001319	HP:0001319	Neonatal hypotonia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0001319	HP:0001319	Neonatal hypotonia	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0001319	HP:0001319	Neonatal hypotonia	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001319	HP:0001319	Neonatal hypotonia	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	.	24
HP:0001319	HP:0001319	Neonatal hypotonia	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001319	HP:0001319	Neonatal hypotonia	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0001319	HP:0001319	Neonatal hypotonia	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0001319	HP:0001319	Neonatal hypotonia	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001319	HP:0001319	Neonatal hypotonia	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0001319	HP:0001319	Neonatal hypotonia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0001319	HP:0001319	Neonatal hypotonia	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.	108
HP:0001319	HP:0001319	Neonatal hypotonia	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0001319	HP:0001319	Neonatal hypotonia	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0001319	HP:0001319	Neonatal hypotonia	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0001319	HP:0001319	Neonatal hypotonia	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0001319	HP:0001319	Neonatal hypotonia	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001319	HP:0001319	Neonatal hypotonia	0	ERCC6L2 CL E G H	375748	26922	OMIM:615715	Bone marrow failure syndrome 2	.	4
HP:0001319	HP:0001319	Neonatal hypotonia	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.	172
HP:0001319	HP:0001319	Neonatal hypotonia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2		13
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0001319	HP:0001319	Neonatal hypotonia	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0001319	HP:0001319	Neonatal hypotonia	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2		493
HP:0001319	HP:0001319	Neonatal hypotonia	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0001319	HP:0001319	Neonatal hypotonia	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001319	HP:0001319	Neonatal hypotonia	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001319	HP:0001319	Neonatal hypotonia	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0001319	HP:0001319	Neonatal hypotonia	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0001319	HP:0001319	Neonatal hypotonia	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001319	HP:0001319	Neonatal hypotonia	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0001319	HP:0001319	Neonatal hypotonia	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001319	HP:0001319	Neonatal hypotonia	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0001319	HP:0001319	Neonatal hypotonia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0001319	HP:0001319	Neonatal hypotonia	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0001319	HP:0001319	Neonatal hypotonia	0	GRIA4 CL E G H	2893	4574	OMIM:617864	Neurodevelopmental disorder with or without seizures and gait abnormalities	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0001319	HP:0001319	Neonatal hypotonia	0	HERC2 CL E G H	8924	4868	OMIM:615516	Mental retardation, autosomal recessive 38		38
HP:0001319	HP:0001319	Neonatal hypotonia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome	.	38
HP:0001319	HP:0001319	Neonatal hypotonia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0001319	HP:0001319	Neonatal hypotonia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0001319	HP:0001319	Neonatal hypotonia	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0001319	HP:0001319	Neonatal hypotonia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0001319	HP:0001319	Neonatal hypotonia	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0001319	HP:0001319	Neonatal hypotonia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0001319	HP:0001319	Neonatal hypotonia	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0001319	HP:0001319	Neonatal hypotonia	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0001319	HP:0001319	Neonatal hypotonia	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent	34
HP:0001319	HP:0001319	Neonatal hypotonia	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0001319	HP:0001319	Neonatal hypotonia	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	13
HP:0001319	HP:0001319	Neonatal hypotonia	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0001319	HP:0001319	Neonatal hypotonia	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0001319	HP:0001319	Neonatal hypotonia	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	11
HP:0001319	HP:0001319	Neonatal hypotonia	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.	4
HP:0001319	HP:0001319	Neonatal hypotonia	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0001319	HP:0001319	Neonatal hypotonia	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040281 - Very frequent	63
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome	.	63
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	63
HP:0001319	HP:0001319	Neonatal hypotonia	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0001319	HP:0001319	Neonatal hypotonia	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0001319	HP:0001319	Neonatal hypotonia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0001319	HP:0001319	Neonatal hypotonia	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001319	HP:0001319	Neonatal hypotonia	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0001319	HP:0001319	Neonatal hypotonia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome	.	5
HP:0001319	HP:0001319	Neonatal hypotonia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0001319	HP:0001319	Neonatal hypotonia	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0001319	HP:0001319	Neonatal hypotonia	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0001319	HP:0001319	Neonatal hypotonia	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0001319	HP:0001319	Neonatal hypotonia	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.	72
HP:0001319	HP:0001319	Neonatal hypotonia	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1269
HP:0001319	HP:0001319	Neonatal hypotonia	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39		13
HP:0001319	HP:0001319	Neonatal hypotonia	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0001319	HP:0001319	Neonatal hypotonia	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0001319	HP:0001319	Neonatal hypotonia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0001319	HP:0001319	Neonatal hypotonia	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	745
HP:0001319	HP:0001319	Neonatal hypotonia	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent	52
HP:0001319	HP:0001319	Neonatal hypotonia	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0001319	HP:0001319	Neonatal hypotonia	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001319	HP:0001319	Neonatal hypotonia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome	.	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001319	HP:0001319	Neonatal hypotonia	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0001319	HP:0001319	Neonatal hypotonia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent	88
HP:0001319	HP:0001319	Neonatal hypotonia	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0001319	HP:0001319	Neonatal hypotonia	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional	231
HP:0001319	HP:0001319	Neonatal hypotonia	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0001319	HP:0001319	Neonatal hypotonia	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.	54
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.	75
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)		59
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)		106
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.	106
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)		98
HP:0001319	HP:0001319	Neonatal hypotonia	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0001319	HP:0001319	Neonatal hypotonia	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001319	HP:0001319	Neonatal hypotonia	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001319	HP:0001319	Neonatal hypotonia	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001319	HP:0001319	Neonatal hypotonia	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0001319	HP:0001319	Neonatal hypotonia	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0001319	HP:0001319	Neonatal hypotonia	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0001319	HP:0001319	Neonatal hypotonia	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0001319	HP:0001319	Neonatal hypotonia	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0001319	HP:0001319	Neonatal hypotonia	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040281 - Very frequent	10
HP:0001319	HP:0001319	Neonatal hypotonia	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0001319	HP:0001319	Neonatal hypotonia	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0001319	HP:0001319	Neonatal hypotonia	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0001319	HP:0001319	Neonatal hypotonia	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0001319	HP:0001319	Neonatal hypotonia	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0001319	HP:0001319	Neonatal hypotonia	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001319	HP:0001319	Neonatal hypotonia	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.	73
HP:0001319	HP:0001319	Neonatal hypotonia	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001319	HP:0001319	Neonatal hypotonia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001319	HP:0001319	Neonatal hypotonia	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent	1200
HP:0001319	HP:0001319	Neonatal hypotonia	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	1200
HP:0001319	HP:0001319	Neonatal hypotonia	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare	263
HP:0001319	HP:0001319	Neonatal hypotonia	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	HP:0040283 - Occasional	263
HP:0001319	HP:0001319	Neonatal hypotonia	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent	263
HP:0001319	HP:0001319	Neonatal hypotonia	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0001319	HP:0001319	Neonatal hypotonia	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	144
HP:0001319	HP:0001319	Neonatal hypotonia	0	SH2B1 CL E G H	25970	30417	ORPHA:261222	Distal 16p11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001319	HP:0001319	Neonatal hypotonia	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040281 - Very frequent	53
HP:0001319	HP:0001319	Neonatal hypotonia	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001319	HP:0001319	Neonatal hypotonia	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0001319	HP:0001319	Neonatal hypotonia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E		14
HP:0001319	HP:0001319	Neonatal hypotonia	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0001319	HP:0001319	Neonatal hypotonia	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome	.
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent	37
HP:0001319	HP:0001319	Neonatal hypotonia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0001319	HP:0001319	Neonatal hypotonia	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001319	HP:0001319	Neonatal hypotonia	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0001319	HP:0001319	Neonatal hypotonia	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0001319	HP:0001319	Neonatal hypotonia	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0001319	HP:0001319	Neonatal hypotonia	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0001319	HP:0001319	Neonatal hypotonia	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0001319	HP:0001319	Neonatal hypotonia	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001319	HP:0001319	Neonatal hypotonia	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0001319	HP:0001319	Neonatal hypotonia	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent	80
HP:0001319	HP:0001319	Neonatal hypotonia	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001319	HP:0001319	Neonatal hypotonia	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001319	HP:0001319	Neonatal hypotonia	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0001319	HP:0001319	Neonatal hypotonia	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia		271
HP:0001319	HP:0001319	Neonatal hypotonia	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040281 - Very frequent	13
HP:0001319	HP:0001319	Neonatal hypotonia	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0001319	HP:0001319	Neonatal hypotonia	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001319	HP:0001319	Neonatal hypotonia	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0001319	HP:0001319	Neonatal hypotonia	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0001319	HP:0001319	Neonatal hypotonia	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001319	HP:0001319	Neonatal hypotonia	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent	37
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	54
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent	54
HP:0001319	HP:0001319	Neonatal hypotonia	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.	108
HP:0001319	HP:0001319	Neonatal hypotonia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040284 - Very rare
HP:0001319	HP:0001319	Neonatal hypotonia	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0001319	HP:0001319	Neonatal hypotonia	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001319	HP:0001319	Neonatal hypotonia	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0001319	HP:0001319	Neonatal hypotonia	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4	.	55
HP:0001319	HP:0001319	Neonatal hypotonia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0001319	HP:0001319	Neonatal hypotonia	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44
HP:0001319	HP:0001319	Neonatal hypotonia	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7	.	7
HP:0001319	HP:0001319	Neonatal hypotonia	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001319	HP:0001319	Neonatal hypotonia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0001319	HP:0001319	Neonatal hypotonia	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	HP:0040283 - Occasional	10
HP:0001319	HP:0001319	Neonatal hypotonia	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001319	HP:0001319	Neonatal hypotonia	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E	.	26
HP:0001319	HP:0001319	Neonatal hypotonia	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent	20
HP:0001319	HP:0001319	Neonatal hypotonia	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent	20
HP:0001319	HP:0001319	Neonatal hypotonia	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4		95
HP:0001319	HP:0001319	Neonatal hypotonia	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0001319	HP:0001319	Neonatal hypotonia	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0001319	HP:0008935	Generalized neonatal hypotonia	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6