A neurodevelopmental disorder caused by variation in the ATXN7L3 gene. This disorder is characterised by global motor and language developmental delay, hypotonia, and distinct craniofacial features. O...
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.