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Growth retardation-mild developmental delay-chronic hepatitis syndrome
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Lethal congenital contracture syndrome type 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Lethal congenital contracture syndrome type 2

SH2B3
(UniProt - OMIM)
 ERBB3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SH2B3
(0.63)
ERBB3


Citations in the biomedical literature:


Growth retardation-mild developmental delay-chronic hepatitis syndrome
SH2B3
Lethal congenital contracture syndrome type 2
ERBB3



Growth retardation-mild developmental delay-chronic hepatitis syndrome
Lethal congenital contracture syndrome type 2

Synonym(s):
(no synonyms)

Synonym(s):
- LCCS2
- Multiple contracture syndrome, Israeli-Bedouin type
Classification (Orphanet):
- Rare genetic disease
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.