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ENBjornstad Syndrome (BJS)
Alias:
Pili Torti-Deafness Syndrome
Bjs
Ptd
Deafness-Pili Torti-Hypogonadism Syndrome
Pili Torti and Nerve Deafness
Björnstad Syndrome
Hearing Loss-Pili Torti-Hypogonadism Syndrome
Deafness and Pili Torti, Bjornstad Type
Pili Torti-Sensorineural Hearing Loss
Pili Torti Nerve Deafness
Bjoernstad Syndrome
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Bjornstad Syndrome, also known as pili torti-deafness syndrome, is related to mitochondrial complex iii deficiency, nuclear type 1 and gracile syndrome. An important gene associated with Bjornstad Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways is Mitochondrial complex III assembly. Affiliated tissues include skin and skeletal muscle, and related phenotypes are sensorineural hearing impairment and alopecia
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