Pili Torti-deafness Syndrome
| Disease Aliases (14) | Bjs Björnstad syndrome Bjornstad syndrome Bjornstad syndrome; bjs Bjornstad's syndrome Deafness - pili torti - hypogonadism Deafness and pili torti, bjornstad type Deafness-pili torti-hypogonadism syndrome Hearing loss-pili torti-hypogonadism syndrome Pili torti and nerve deafness Ptd Ptnd Pili torti-sensorineural hearing loss |
Associated Genes (1) NCBI-RefSeq: BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Pili torti-deafness syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |