pontocerebellar hypoplasia type 2C

Term ID

DOID:0060269

Synonyms

Definition

A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. https://www.omim.org/entry/612390

References

• MESH:C567324
• OMIM:612390
• ORDO:2524
• UMLS_CUI:C2676465

Ontology

Human Disease   ( DOID:0060269 )