autosomal dominant Robinow syndrome 3

Term ID

DOID:0060767

Synonyms

• DRS3

Definition

A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/26924530

References

• MIM:616894
• ORDO:3107
• ORDO:97360

Ontology

Human Disease   ( DOID:0060767 )