KANSL1
KAT8 regulatory NSL complex subunit 1
Normal Function
Health Conditions Related to Genetic Changes
Koolen-de Vries syndrome
KANSL1 gene mutations or deletions of genetic material including this gene cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.
Loss of one copy of the KANSL1 gene in each cell impairs normal development and function of various organs and tissues of the body, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear.
More About This Health ConditionRelated Conditions
Koolen-de Vries syndrome
Health Conditions Related to Genetic Changes
KANSL1 gene mutations or deletions of genetic material including this gene cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.
Loss of one copy of the KANSL1 gene in each cell impairs normal development and function of various organs and tissues of the body, but the relationship of KANSL1 gene loss to the specific signs and symptoms of Koolen-de Vries syndrome is unclear.