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Metadata
ID	DOID:0060276
Name	pontocerebellar hypoplasia type 7
Definition	A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. https://pubmed.ncbi.nlm.nih.gov/21594990/
Xrefs	ICD10CM:Q04.3 MIM:614969 ORDO:284339
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia