Term Name:	pontocerebellar hypoplasia type 2A
Synonyms:
Definition:	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
Ontology:	Human Disease [DOID:0060267]   ( DOID:0060267 )