Search Ontology:
Human Disease
pontocerebellar hypoplasia type 1D
- Term ID
- DOID:0112323
- Synonyms
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- PCH1D
- Definition
- A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (2)
- References
- Ontology
- Human Disease ( DOID:0112323 )
- is a type of
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