Term Name:	pontocerebellar hypoplasia type 2F
Synonyms:	PCH2F
Definition:	A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3.
Ontology:	Human Disease [DOID:0112329]   ( DOID:0112329 )