Fraser Syndrome(Cryptophthalmos syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye 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 | FREM2/341640 | FRAS1 related extracellular matrix 2 | 13q13.3 | Chr13, NC_000013.11 (38687077..38887131) |
200055 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FRAS1/80144 | Fraser extracellular matrix complex subunit 1 | 4q21.21 | Chr4, NC_000004.12 (78057323..78544269) |
486947 nt | 74 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GRIP1/23426 | glutamate receptor interacting protein 1 | 12q14.3 | Chr12, NC_000012.12 (66347431..67069338, complement) |
721908 nt | 28 | 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 |