Shprintzen-Goldberg Syndrome Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant 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 | SKI/6497 | SKI proto-oncogene | 1p36.33 | Chr1, NC_000001.11 (2228319..2310213) |
81895 nt | 9 | 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 | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |