Term Name: pontocerebellar hypoplasia type 3
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0060272]   ( DOID:0060272 )

Relationships
is a type of: pontocerebellar hypoplasia