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GENATLAS PHENOTYPE
last update : 15-09-2021
Symbol NEDHYBA
Location 4q33
Name neurodevelopmental disorder with hypotonia and brain abnormalities
Corresponding gene CLCN3
Main clinical features
  • characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood, also feeding difficulties, seizures, behavioral abnormalities, and nonspecific dysmorphic facial features
  • brain imaging shows variable abnormalities, including corpus callosum defects, cerebellar defects, and decreased white matter volume
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s)