Oromandibular-limb Hypogenesis Spectrum(Moebius syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant 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 | SIM1/6492 | SIM bHLH transcription factor 1 | 6q16.3 | Chr6, NC_000006.12 (100385009..100464921, complement) |
79913 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EBF3/253738 | EBF transcription factor 3 | 10q26.3 | Chr10, NC_000010.11 (129835233..129964274, complement) |
129042 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CHN1/1123 | chimerin 1 | 2q31.1 | Chr2, NC_000002.12 (174798809..175005381, complement) |
206573 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |