OBO ID: DOID:0112323 |
Term Name: | pontocerebellar hypoplasia type 1D | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0112323 ) |
OTHER pontocerebellar hypoplasia type 1D PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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