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Metadata
ID	DOID:0112323
Name	pontocerebellar hypoplasia type 1D
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. https://pubmed.ncbi.nlm.nih.gov/30690203/, https://pubmed.ncbi.nlm.nih.gov/29727687/
Xrefs	MIM:618065
Synonyms	PCH1D [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance