autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2

Term ID

DOID:0061228

Synonyms

Definition

A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/19387015/

References

• MIM:600142

Ontology

Human Disease   ( DOID:0061228 )