pontocerebellar hypoplasia type 2B

Term ID

DOID:0060268

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. https://www.omim.org/entry/612389

References

• MESH:C567325
• OMIM:612389
• ORDO:2524
• UMLS_CUI:C2676466

Ontology

Human Disease   ( DOID:0060268 )