Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and si...
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.