pontocerebellar hypoplasia type 8

Term ID

DOID:0060277

Synonyms

Definition

A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. https://www.omim.org/entry/614961

References

• ICD10CM:Q04.3
• OMIM:614961
• ORDO:324569

Ontology

Human Disease   ( DOID:0060277 )