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BRESEK syndrome

Disease definition

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

ORPHA:85284

Classification level: Disorder
  • Synonym(s):
    • BRESHECK syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 308205
  • UMLS: C3502469
  • MeSH: -
  • GARD: -
  • MedDRA: -
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