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autosomal recessive Robinow syndrome
Summary
- Synonym
-
- COVESDEM syndrome
- RRS
- costovertebral segmentation defect-mesomelia syndrome
- Definition
- A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
- Super Class
- Robinow syndrome autosomal recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q01974 | Tyrosine-protein kinase transmembrane receptor ROR2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8C3W2 | Receptor tyrosine kinase-like orphan receptor 2 |
