DISEASES

Disease-gene associations mined from literature

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