A neurodevelopmental disorder caused by mutation in ESAM gene. It is characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting...
Comprehensive, easy-to-understand information about this condition
How we create this content →Report Generation Failed
We couldn't automatically generate the report. This may be due to temporary service issues.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease