Term Name:	pontocerebellar hypoplasia type 4
Synonyms:
Definition:	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.
Ontology:	Human Disease [DOID:0060273]   ( DOID:0060273 )