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 215096tree icon - Finnish Muscular hypotonia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103076 F 215099tree icon - Omani Muscular hypotonia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103110 M 215099tree icon - Omani Muscular hypotonia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103132 M 215102tree icon 1 Emirati Generalized hypotonia Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC36500:IV.6(IV.3)]
103171 M 215104tree icon 2 Omani Generalized hypotonia Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.11]
103279 M 214767tree icon - Georgian Muscular hypotonia Peroxisome biogenesis factor disorder 8A PMID:33571536 [Fam.P-FR1:II.1(brother)]
104625 M 215559tree icon - Muscular hypotonia X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.B:II.2(P2)]
105135 F 215649tree icon 0 Moroccan Muscular hypotonia Autoinflammation, panniculitis, and dermatosis syndrome PMID:38914362 [Fam.M:II.1(107)]
105743 F 215848tree icon 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 215889tree icon - Spanish Muscular hypotonia Immunodeficiency, common variable, 14 PMID:37876937 [Fam.4:II.1(4.1)]
106654 M 216101tree icon - Syrian Neonatal hypotonia Intellectual disability due to EZR deficiency PMID:25504542 [Fam.MR037:IV.1(IV-1)]
106667 M 216101tree icon - 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).