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GTR Home > Conditions/Phenotypes > Hypoparathyroidism-retardation-dysmorphism syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome

Synonyms
HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; Sanjad-Sakati syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HRD, KCS, KCS1, PEAMO, pac2, TBCE
    Summary: tubulin folding cofactor E

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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