Preferred Label : Waardenburg syndrome type 3;
ICD-11 definition : This type is caused by mutations in PAX3 and is phenotypically similar to type 1 with
the additional feature of limb abnormalities.;
Origin ID : 847608197;
Automatic exact mappings (from CISMeF team)
This type is caused by mutations in PAX3 and is phenotypically similar to type 1 with
the additional feature of limb abnormalities.