Human genes for autosomal dominant Robinow syndrome 2
Autosomal dominant Robinow syndrome 2 [DOID:0060765]
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.
Synonyms: autosomal dominant Robinow syndrome 2, DOID:0060765, DRS2