Johanson-Blizzard syndrome

From Ganfyd

Jump to: navigation, search

Johanson-Blizzard syndrome (JBS) is:

  • Aplasia or hypoplasia of the nasal alae
  • Congenital deafness
  • Hypothyroidism
  • Growth retardation
  • Malabsorption
  • Mental retardation
  • Midline ectodermal scalp defects
  • Absent permanent teeth

Caused by mutations of UBR1 gene coding for ubiquitin-protein ligase UBR1 at 15q15-q21.1