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Renal tubulopathy - encephalopathy - liver failure

1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

BjÃ¶rnstad syndrome

1 OMIM reference -
1 associated gene
7 signs/symptoms

Renal tubulopathy - encephalopathy - liver failure

BjÃ¶rnstad syndrome

BCS1L

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	BCS1L

Citations in the biomedical literature:

Renal tubulopathy - encephalopathy - liver failure		BjÃ¶rnstad syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Deafness - pili torti - hypogonadism

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare skin disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537633

BjÃ¶rnstad syndrome
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Autosomal recessive inheritance - Hairy patch - Pili torti - Sensorineural deafness / hearing loss Frequent - Alopecia
Renal tubulopathy - encephalopathy - liver failure
(no data available)