OBO ID: DOID:0112334 |
Term Name: | pontocerebellar hypoplasia type 1C | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112334 ) |
OTHER pontocerebellar hypoplasia type 1C PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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