pontocerebellar hypoplasia type 10

Term ID

DOID:0060279

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. https://www.omim.org/entry/615803

References

• OMIM:615803
• ORDO:411493

Ontology

Human Disease   ( DOID:0060279 )