Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Genes: pura (Xtr)

autosomal dominant intellectual developmental disorder 31

Disease
Source: DOID:0070061
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3.
Genes: pura (Xtr)