Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Associated Species: Homo sapiens Genes: St3gal5 (Rno)

salt and pepper syndrome

Disease
Source: DOID:0060470
Definition: A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2.
Genes: St3gal5 (Rno)