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Mesh term Donohue Syndrome

Browse to parent terms:
Abnormalities, Multiple
Craniofacial Abnormalities
Diabetes Mellitus
Genetic Diseases, Inborn

Description

Rare autosomal recessive syndrome of extreme insulin resistance due to mutations in the binding domain of INSULIN RECEPTOR. Clinical features include severe intrauterine and postnatal growth restriction, characteristic dysmorphic FACIES; HIRSUTISM; VIRILIZATION; multiple endocrine abnormalities, and early death.



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jenkins-FCD Prod-480 9a4deaf152b0b06dd18151814fff2e18f6c05280