Term Name: | congenital myopathy 16 |
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Synonyms: | |
Definition: | A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. |
Ontology: | Human Disease [DOID:0081348] ( DOID:0081348 ) |