Term Name: congenital myopathy 16
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 )

Relationships
is a type of: autosomal dominant disease congenital myopathy