Term Name: autosomal dominant Robinow syndrome 2
Synonyms: DRS2
Definition: A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36.
Ontology: Human Disease [DOID:0060765]   ( DOID:0060765 )

Relationships
is a type of: autosomal dominant disease Robinow syndrome