Term Name: pontocerebellar hypoplasia type 5
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0060274]   ( DOID:0060274 )

Relationships
is a type of: pontocerebellar hypoplasia