Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder

Clin Genet. 2005 May;67(5):448-9. doi: 10.1111/j.1399-0004.2005.00429.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Adult
  • Child
  • Female
  • Fever / complications
  • Fever / genetics
  • Humans
  • Inheritance Patterns
  • Intellectual Disability / genetics*
  • Keratoconus / genetics*
  • Male
  • Seizures / genetics*
  • Siblings
  • Sinoatrial Block / genetics*
  • Syndrome