Pili Torti-deafness Syndrome(Björnstad syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Ear disorders/Hair disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Ear disorders/Hair 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 | BCS1L/617 | BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone | 2q35 | Chr2, NC_000002.12 (218658743..218663443) |
4701 nt | 9 | 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 |