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Aplasia/Hypoplasia involving the skeletal musculature

MedGen UID:: 871285
•Concept ID:: C4025773
•: Finding

Synonyms:	Absent/small skeletal muscles; Absent/underdeveloped skeletal muscles

HPO:	HP:0001460

Definition

Absence or underdevelopment of the musculature. [from HPO]

Term Hierarchy

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia involving the skeletal musculature

Recent clinical studies

Diagnosis

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).

Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314

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Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature

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