Mayer-Rokitansky-Küster-Hauser Syndrome Type 2(Klippel-Feil deformity, conductive deafness, and absent vagina) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Reproductive disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Reproductive 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 | GREB1L/80000 | GREB1 like retinoic acid receptor coactivator | 18q11.1 | Chr18, NC_000018.10 (21242232..21526112) |
283881 nt | 35 | 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