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DO Term : ITM2B-related cerebral amyloid angiopathy 1 [DOID:0070029] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14.
  • synonyms:
  • Presenile Dementia with Spastic Ataxia,
  • Familial British Dementia,
  • FBD,
  • 176500,
  • OMIM:176500,
  • GARD:8344,
  • Cerebral Amyloid Angiopathy, British Type
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