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:
Hypotonia (HP:0001252)

Parent Node:
Neonatal hypotonia (HP:0001319)

..Starting node
..Generalized neonatal hypotonia (HP:0008935)

Term ID:

8935

Name:

Generalized neonatal hypotonia

Synonym:

Generalised low muscle tone in neonate; Generalised neonatal hypotonia; Generalized low muscle tone in neonate; Hypotonia, neonatal, generalised; Hypotonia, neonatal, generalized

Definition:

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.

Comments:

Reference:

HP:0008935

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Severe neonatal hypotonia in males (HP:0006830)

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:0008935	HP:0008935	Generalized neonatal hypotonia	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.	65
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.	59
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.	106
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.	98
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0008935	HP:0008935	Generalized neonatal hypotonia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (22) :ADNP ATP2B3 BPTF COG4 EEF1A2 FIG4 GDAP1 MED12 MTHFR PEX10 PEX12 PEX16 PEX2 PEX26 PEX3 PEX6 PSMD12 SUCLG1 SYNE1 TBC1D24 TRNT VAC14

Diseases (20) :ORPHA:404448 ORPHA:314978 ORPHA:529962 ORPHA:263501 OMIM:616393 ORPHA:3472 ORPHA:99948 ORPHA:93932 ORPHA:395 OMIM:614870 OMIM:614859 OMIM:614876 OMIM:614866 OMIM:614872 OMIM:614882 OMIM:614862 OMIM:245400 ORPHA:319332 ORPHA:352596 ORPHA:254857

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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