Search Ontology:
Human Disease

pontocerebellar hypoplasia type 1C

Term ID
DOID:0112334
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. https://pubmed.ncbi.nlm.nih.gov/24989451/
References
Ontology
Human Disease   ( DOID:0112334 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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