autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1

Term ID

DOID:0061227

Synonyms

Definition

A CADASIL characterized by the onset of neurologic symptoms in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutations in the NOTCH3 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/39191170/

References

• MIM:621295

Ontology

Human Disease   ( DOID:0061227 )