Visualize Submit Comment

Metadata
ID	DOID:0112334
Name	pontocerebellar hypoplasia type 1C
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/
Xrefs	MIM:616081
Synonyms	PCH1C [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease