nonprogressive cerebellar ataxia with mental retardation

Term ID

DOID:0050998

Synonyms

Definition

An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. https://www.omim.org/entry/614756

References

• OMIM:614756

Ontology

Human Disease   ( DOID:0050998 )