Term Name: | pontocerebellar hypoplasia type 1C |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112334] ( DOID:0112334 ) |