| 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 ) |