Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy
2 - CISMeF
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy
2OMIM Phenotype
Preferred Label : Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy
2;
Symbol : CARASIL2;
CISMeF acronym : CARASIL;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Subcortical vascular encephalopathy, progressive; Cerebrovascular disease with thin skin, alopecia, and disc disease; Maeda syndrome;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the HTRA serine peptidase 1 gene (HTRA1, 602194.0002);