DISEASES

Disease-gene associations mined from literature

Human genes for pontocerebellar hypoplasia type 3

Pontocerebellar hypoplasia type 3 [DOID:0060272]

A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene.

Synonyms:  pontocerebellar hypoplasia type 3,  DOID:0060272