Search Ontology:
Human Disease
pontocerebellar hypoplasia type 1C
- Term ID
- DOID:0112334
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/24989451/
- References
- Ontology
- Human Disease ( DOID:0112334 )
- is a type of
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