Orphanet: Basel Vanagaite Smirin Yosef syndrome

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Basel-Vanagaite-Smirin-Yosef syndrome

Disease definition

A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 616449
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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