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Metadata
ID	DOID:0060266
Name	pontocerebellar hypoplasia type 1B
Definition	A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. https://pubmed.ncbi.nlm.nih.gov/25149867/
Xrefs	MIM:614678 ORDO:2254
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia type 1 is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance