Human genes for pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 7 [DOID:0060276]
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.
Synonyms: pontocerebellar hypoplasia type 7, DOID:0060276