Search results for SOX10

Gene symbol Genotype Mutation consequence Disease Panels Go to page
SOX10 monoallelic dominant negative PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE DD,Eye,Skin
SOX10 monoallelic loss of function WAARDENBURG SYNDROME TYPE 2E DD,Eye,Skin
SOX10 monoallelic uncertain YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME DD,Eye,Skin
SOX10 monoallelic dominant negative Waardenburg-Shah syndrome, neurologic variant Skin