Search Ontology:
Human Disease
congenital myopathy 18
- Term ID
- DOID:0081350
- Synonyms
-
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0081350 )
- is a type of
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