GTR Home > Conditions/Phenotypes > INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM

Summary

Intellectual developmental disorder and hypogonadotropic hypogonadism (IDDHH) is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism. Variable features include central hypothyroidism, hypotonia, and developmental delay (Alsters et al., 2015; Durmaz et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CPH, IDDHH, CPE
    Summary: carboxypeptidase E

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