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GTR Home > Conditions/Phenotypes > BDV syndrome

BDV syndrome

Synonyms
BLAKEMORE-DURMAZ-VASILEIOU SYNDROME; INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM

Summary

BDV syndrome (BDVS) is an autosomal recessive disorder characterized by early-onset profound obesity, hyperphagia, and moderately impaired intellectual development accompanied by infantile hypotonia and other endocrine disorders including hypogonadotropic hypogonadism, hypothyroidism, and insulin resistance (summary by Bosch et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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