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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://www.omim.org/entry/614969
Xrefs	ICD10CM:Q04.3 OMIM:614969 ORDO:284339
Subsets	DO_rare_slim
Parent Relationships	is_a pontocerebellar hypoplasia