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Intellectual disability-sparse hair-brachydactyly syndrome

Disease definition

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

ORPHA:3051

  • Synonym(s):
    • Nicolaides-Baraitser syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 601358
  • UMLS: C1303073
  • MeSH: -
  • GARD: 270
  • MedDRA: -

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