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Metadata
ID	DOID:0112324
Name	pontocerebellar hypoplasia type 11
Definition	A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. https://pubmed.ncbi.nlm.nih.gov/28823706/
Xrefs	MIM:617695 ORDO:611247
Subsets	DO_rare_slim
Synonyms	PCH11 [EXACT]
Parent Relationships	is_a pontocerebellar hypoplasia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance