pontocerebellar hypoplasia type 2E

Term ID

DOID:0060271

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. https://www.omim.org/entry/615851

References

• OMIM:615851

Ontology

Human Disease   ( DOID:0060271 )