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leprechaunism (Donohue syndrome)
Genetics:
- autosomal recessive
- associated with defects in insulin receptor (INSR)
Clinical manifestations:
- most severe form of insulin resistance syndrome
- intrauterine & postnatal growth retardation
- death in early infancy
Laboratory:
- serum glucose (high)
- serum insulin (high)
General
diabetes mellitus type 2 (insulin-resistant)
genetic syndrome (multisystem disorder)
genetic disease of the endocrine system
Database Correlations
OMIM 246200
References
UniProt :accession P06213