Term Name: | pontocerebellar hypoplasia type 2B |
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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 ) |