GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details 

RGDs registry under the 'Ear disorders/Hair disorders'
Disorder Name (Total=1) Aliases Sub-Category Gene Indian Reports Link
Pili torti-deafness syndrome
Autosomal recessive
•Björnstad syndrome
•Bjornstad syndrome
- BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Reports
Updated as of Nov 30, 2023
PubMed