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Alopecia-intellectual disability syndrome

Disease definition

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ORPHA:2850

  • Synonym(s):
    • Perniola-Krajewska-Carnevale syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 203650  610422  613930
  • UMLS: C2931280
  • MeSH: -
  • GARD: 612
  • MedDRA: -

Additional information

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