| Metadata | |
|---|---|
| ID | DOID:0060764 |
| Name | autosomal recessive Robinow 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. https://www.ncbi.nlm.nih.gov/pubmed/10932186, https://www.ncbi.nlm.nih.gov/pubmed/10932187 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
costovertebral segmentation defect-mesomelia syndrome [EXACT] COVESDEM syndrome [EXACT] RRS [EXACT] |
| Parent Relationships |
is_a Robinow syndrome |