Term Name: Adams-Oliver syndrome 2
Synonyms: AOS2
Definition: An Adams-Oliver syndrome that is characterized by aplasia cutis congenita and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems and that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK6 gene on chromosome 19p13.2.
Ontology: Human Disease [DOID:0061345]   ( DOID:0061345 )

Relationships
is a type of: Adams-Oliver syndrome autosomal recessive disease