Atrophia Bulborum Hereditaria(Norrie disease) Explore Disorder's Alias
An X-linked dominant mode(s) within the Eye disorders / Ear disorders category
Candidate Gene Information
An X-linked dominant mode(s) within the Eye disorders / Ear 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 | NDP/4693 | norrin cystine knot growth factor NDP | Xp11.3 | ChrX, NC_000023.11 (43948776..43973390, complement) |
24615 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TSPAN12/23554 | tetraspanin 12 | 7q31.31 | Chr7, NC_000007.14 (120787320..120858335, complement) |
71016 nt | 10 | 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 Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |