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pontocerebellar hypoplasia type 1C
Summary
- Synonym
-
- PCH1C
- Definition
- A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3.
- Super Class
- autosomal recessive disease pontocerebellar hypoplasia type 1
External Links
- Disease Ontology
- DOID:0112334
- Mondo Disease Ontology
- OMIM
