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Björnstad syndrome
1 OMIM reference -
1 associated gene
5 connected diseases
7 signs/symptoms
Disease Type of connection
GRACILE syndrome
Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with nephrotic syndrome
Renal tubulopathy - encephalopathy - liver failure
Wolf-Hirschhorn syndrome
Synonym(s):
- Deafness - pili torti - hypogonadism
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537633
Gene symbol UniProt reference OMIM reference
BCS1L Q9Y276603647
Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Autosomal recessive inheritance
- Hairy patch
- Pili torti
- Sensorineural deafness / hearing loss

Frequent
- Alopecia