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Metadata
DOID DOID:0060767
Name autosomal dominant Robinow syndrome 3
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
Synonyms

DRS3 [EXACT]

Xrefs

OMIM:616894

ORDO:3107

ORDO:97360

Relationships

is_a Robinow syndrome

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