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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 14-10-2009
Symbol HRD
Location 1q42.3
HGNC id 5179
Name hypoparathyroidism-retardation-dysmorphism syndrome
Other name(s)
  • tubulin specific chaperone
  • Sanjad-Sakati syndrome
  • Corresponding gene TBCE
    Other symbol(s) SSS
    Main clinical features
  • fatal developmental disease, characterized by congenital hypoparathyroidism, seizures, growth and mental retardation, facial dysmorphism, maybe allelic to Kenny Caffey syndrome (KCS)
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    mental retardation
    neurology
    Type disease
    Remark(s)