Laurence-Moon 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 | PNPLA6/10908 | patatin like phospholipase domain containing 6 | 19p13.2 | Chr19, NC_000019.10 (7534164..7561767) |
27604 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |