CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY(Fatty acyl-CoA reductase 1 superactivity)
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | FAR1/84188 | fatty acyl-CoA reductase 1 | 11p15.3 | Chr11, NC_000011.10 (13668668..13732346) |
63679 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities