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autosomal dominant Robinow syndrome 2
Summary
- Synonym
-
- 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.
- Super Class
- Robinow syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060765
- Mondo Disease Ontology
- ORDO
- OMIM
