ITM2B-related cerebral amyloid angiopathy 2

Term ID

DOID:0070030

Synonyms

• Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
• Familial Danish Dementia
• FDD
• Heredopathia Ophthalmootoencephalica
• HOOE

Definition

A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. https://www.ncbi.nlm.nih.gov/pubmed/10781099

References

• MIM:117300

Ontology

Human Disease   ( DOID:0070030 )