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GTR Home > Conditions/Phenotypes > Growth delay due to insulin-like growth factor I resistance

Growth delay due to insulin-like growth factor I resistance

Synonyms
IGF-1 resistance; IGF-I RESISTANCE; Insulin-Like Growth Factor I Resistance; Insulin-Like Growth Factor I, Resistance to; Insulin-like growth factor 1 resistance to; Somatomedin end-organ insensitivity to; Somatomedin-c resistance to
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Patients with mutations in the receptor for insulin-like growth factor I show intrauterine growth retardation and postnatal growth failure, resulting in short stature and microcephaly. Other features may include delayed bone age, developmental delay, and dysmorphic features. [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD221, IGFIR, IGFR, JTK13, IGF1R
    Summary: insulin like growth factor 1 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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