Term Name:	pontocerebellar hypoplasia type 7
Synonyms:
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.
Ontology:	Human Disease [DOID:0060276]   ( DOID:0060276 )