X-linked congenital myopathy with fiber-type disproportion (Q66084922)
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A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has material basis in mutation in the chromosome region Xq13.1-q22.1.
- CFTDX
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | X-linked congenital myopathy with fiber-type disproportion |
A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has material basis in mutation in the chromosome region Xq13.1-q22.1. |
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Statements
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Identifiers
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1 reference