A Mendelian disease characterized by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in pat...
Comprehensive, easy-to-understand information about this condition
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.