Congenital Fibrosis Of Extraocular Muscles Type 1(Blepharoptosis with absent eye movements)
An Autosomal dominant mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neuromuscular 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 | KIF21A/55605 | kinesin family member 21A | 12q12 | Chr12, NC_000012.12 (39293228..39443120, complement) |
149893 nt | 38 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities