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autosomal dominant Robinow syndrome 3
Summary
- Synonym
-
- 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.
- Super Class
- Robinow syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060767
- Mondo Disease Ontology
- ORDO
- OMIM
