Human genes for pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 5 [DOID:0060274]
A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
Synonyms: pontocerebellar hypoplasia type 5, DOID:0060274