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Microcephaly-deafness-intellectual disability syndrome

Disease definition

Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.

ORPHA:2533

Classification level: Disorder
  • Synonym(s):
    • Kawashima-Tsuji syndrome
    • Microcephaly-hearing loss-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • OMIM: 156620
  • UMLS: C0796062
  • MeSH: -
  • GARD: 230
  • MedDRA: -
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