Human genes for pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 4 [DOID:0060273]
A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.
Synonyms: pontocerebellar hypoplasia type 4, DOID:0060273