Coffin-Lowry Syndrome(Mental retardation with osteocartilaginous abnormalities) Explore Disorder's Alias
An X-linked dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Multisystemic 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 | RPS6KA3/6197 | ribosomal protein S6 kinase A3 | Xp22.12 | ChrX, NC_000023.11 (20149911..20267097, complement) |
117187 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities