Term Name: pontocerebellar hypoplasia type 2B
Synonyms:
Definition: A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene.
Ontology: Human Disease [DOID:0060268]   ( DOID:0060268 )

Relationships
is a type of: autosomal recessive disease pontocerebellar hypoplasia type 2