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Metadata
ID	DOID:0081350
Name	congenital myopathy 18
Definition	A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. https://pubmed.ncbi.nlm.nih.gov/33060286/, https://pubmed.ncbi.nlm.nih.gov/34763287/
Xrefs	MIM:620246
Parent Relationships	is_a autosomal dominant disease is_a autosomal recessive disease is_a congenital myopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance