Autosomal Recessive Nonsyndromic Hearing Loss 12(DFNB12 Nonsyndromic Hearing Loss and Deafness)
An Autosomal recessive mode(s) within the Ear disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the 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 | CDH23/64072 | cadherin related 23 | 10q22.1 | Chr10, NC_000010.11 (71396920..71815947) |
419028 nt | 71 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | PKHD1L1/93035 | PKHD1 like 1 | 8q23.1 | Chr8, NC_000008.11 (109362461..109537207) |
174747 nt | 79 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities