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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-11-2020
Location 2q32.1
Name neurodevelopmental disorder with autism spectrum disorder (ASD) and intellectual disability
Corresponding gene NCKAP1
Main clinical features
  • autism spectrum disorder (ASD) and intellectual disability
  • repetitive behaviors, aggressive behaviors, and attention-deficit/hyperactivity disorder (ADHD) ; also anxiety, depression, and obsessive behaviors, sleeping disturbance and seizure
  • tall stature an overweight are frequent
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    psychiatry disorder
    Type disease
    Remark(s) . NCKAP1 loss of function may result in abnormal neuronal migration, consistent with the previous study that premature expression of NCKAP1 retards neocortical neuronal migration (PMID: 33157009))