autosomal dominant Robinow syndrome 1

Term ID

DOID:0060766

Synonyms

• DRS1

Definition

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. (2)

References

• MIM:180700
• ORDO:3107

Ontology

Human Disease   ( DOID:0060766 )