Human genes for pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 2A [DOID:0060267]
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.
Synonyms: pontocerebellar hypoplasia type 2A, DOID:0060267