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Microcephaly-lymphedema-chorioretinopathy syndrome

Disease definition

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

ORPHA:2526

  • Synonym(s):
    • MLCRD
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 152950
  • UMLS: C1835265  C3501946
  • MeSH: C537711
  • GARD: 3622
  • MedDRA: -

Additional information

Specialised Social Services

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