C129867Level 4
Growth Hormone Insensitivity Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty.
**Synonyms:** - Growth Hormone Insensitivity Syndromes - Growth Hormone Insensitivity Syndromes
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