CLP1 mutations cause failure in normal nervous system development and results in abnormalities in the structure and the function of the brain and other compartments of the nervous system. Patients present with small head size (microcephaly), cognitive impairment (intellectual disability and developmental delay), seizures (epilepsy) and severe delay in motor development. In addition to neurologic findings, skeletal (kyphoscoliosis and hip abnormalities) and feeding problems were also reported.
CLP1