Term Name: Waardenburg syndrome type 1
Synonyms: Waardenburg syndrome type I, WS1
Definition: A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.
Ontology: Human Disease [DOID:0110948]   ( DOID:0110948 )

Relationships
is a type of: Waardenburg syndrome
inverse disjoint_from: Waardenburg syndrome type 2B