Term Name:	pontocerebellar hypoplasia type 2C
Synonyms:
Definition:	A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene.
Ontology:	Human Disease [DOID:0060269]   ( DOID:0060269 )