Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Alleles: Hnrnph2<em2Jpat> (Mmu)

syndromic X-linked intellectual developmental disorder bain type

Disease
Source: DOID:0070538
Definition: A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1.