DISEASES

Disease-gene associations mined from literature

Human genes for pontocerebellar hypoplasia type 10

Pontocerebellar hypoplasia type 10 [DOID:0060279]

A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.

Synonyms:  pontocerebellar hypoplasia type 10,  DOID:0060279