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7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
COL4A1/2-related familial vascular leukoencephalopathy
COL4A-related brain small vessel disease with hemorrhage · COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
Cree leukoencephalopathy
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy