Autosomal Recessive Robinow Syndrome(Robinow syndrome)
An Autosomal recessive mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Bone disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | ROR2/4920 | receptor tyrosine kinase like orphan receptor 2 | 9q22.31 | Chr9, NC_000009.12 (91722601..91950228, complement) |
227628 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |