autosomal dominant Robinow syndrome 2

Term ID

DOID:0060765

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. (2)

References

• MIM:616331
• ORDO:3107

Ontology

Human Disease   ( DOID:0060765 )