Muscular hypotonia
Basic details
Preferred term: Muscular hypotonia
Alt. terms: hypotonia | Muscle hypotonia
HPO term: Hypotonia
HPO code: HP:0001252
GenIA ID: 850
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: D009123
EFO: -
OAE:0000612
SNOMEDCT: -
ICD10: -
Description
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching, resulting in limpness of the muscles in the resting state, not to be confused with weakness. Muscular hypotonia may be related to defects in skeletal muscle, neuromuscular junction, or peripheral nerve.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
103062 | M | 215096![]() |
- | Finnish | Muscular hypotonia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103076 | F | 215099![]() |
- | Omani | Muscular hypotonia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
- | Omani | Muscular hypotonia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103132 | M | 215102![]() |
1 | Emirati | Generalized hypotonia | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC36500:IV.6(IV.3)] |
103171 | M | 215104![]() |
2 | Omani | Generalized hypotonia | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.11] |
103279 | M | 214767![]() |
- | Georgian | Muscular hypotonia | Peroxisome biogenesis factor disorder 8A | PMID:33571536 [Fam.P-FR1:II.1(brother)] |
104625 | M | 215559![]() |
- | Muscular hypotonia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
105135 | F | 215649![]() |
0 | Moroccan | Muscular hypotonia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:38914362 [Fam.M:II.1(107)] |
105743 | F | 215848![]() |
0 | Caucasian | Muscular hypotonia | NFKB1 insufficiency | PMID:32278790 [AE.I.1]; PMID:150198 [Fam.CM:II.2(432)]; PMID:38593810 [Fam.4:II.2(F4.II-2)] |
105844 | M | 215889![]() |
- | Spanish | Muscular hypotonia | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
106654 | M | 216101![]() |
- | Syrian | Neonatal hypotonia | Intellectual disability due to EZR deficiency | PMID:25504542 [Fam.MR037:IV.1(IV-1)] |
106667 | M | 216101![]() |
- | Syrian | Neonatal hypotonia | Intellectual disability due to EZR deficiency | PMID:25504542 [Fam.MR037:IV.3(IV-3)] |
107149 | M | 216363 | - | Iranian | Muscular hypotonia | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).