Human genes for autosomal dominant Robinow syndrome 1
Autosomal dominant Robinow syndrome 1 [DOID:0060766]
A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p.
Synonyms: autosomal dominant Robinow syndrome 1, DOID:0060766, DRS1