Congenital Hereditary Endothelial Dystrophy Of Cornea(Maumenee corneal dystrophy) 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 | SLC4A11/83959 | solute carrier family 4 member 11 | 20p13 | Chr20, NC_000020.11 (3227417..3239559, complement) |
12143 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities