Blepharophimosis - Intellectual Disability Syndrome, MKB Type(Blepharophimosis-mental retardation syndrome, maat-kievit-brunner type)
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Neurodevelopmental 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 | MED12/9968 | mediator complex subunit 12 | Xq13.1 | ChrX, NC_000023.11 (71118596..71142450) |
23855 nt | 44 | 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