pontocerebellar hypoplasia type 2E

Term ID

DOID:0060271

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by profoundly impaired intellectual development, progressive microcephaly, spasticity, and early-onset epilepsy that has_material_basis_in compound heterozygous mutation in the VPS53 gene on chromosome 17p13. (2)

References

• MIM:615851

Ontology

Human Disease   ( DOID:0060271 )