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GRACILE syndrome
1 OMIM reference -
1 associated gene
11 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
Björnstad syndrome
1 OMIM reference -
1 associated gene
7 signs/symptoms
GRACILE syndrome
Björnstad syndrome

BCS1L
(UniProt - OMIM)
 BCS1L
(UniProt - OMIM)

COMMON
GENES 		BCS1L


Citations in the biomedical literature:


GRACILE syndrome
BCS1L
Björnstad syndrome



GRACILE syndrome
Björnstad syndrome

Synonym(s):
- Fellman disease
- Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
- Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
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 -
1 MeSH reference: C537934
External references:
1 OMIM reference -
1 MeSH reference: C537633
COMMON
SIGNS 		- Autosomal recessive inheritance

GRACILE syndrome
Björnstad syndrome

Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Cirrhosis
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hearing loss / hypoacusia / deafness
- Hepatitis / icterus / cholestasis
- Hyperferritinemia / iron overload
- Liver / hepatic steatosis
- Renal tubular defect / tubulopathy

Frequent
- Brittle hair / distrix / trichorrhexis
- Early death / lethality



Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Hairy patch
- Pili torti
- Sensorineural deafness / hearing loss

Frequent
- Alopecia