Term Name: Klippel-Feil syndrome 1
Synonyms:
Definition: A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Ontology: Human Disease [DOID:0080589]   ( DOID:0080589 )

Relationships
is a type of: autosomal dominant disease Klippel-Feil syndrome