DISEASES

Disease-gene associations mined from literature

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