Disease-causing, DNA changes in one copy of the DCC gene are associated with:
• Mirror movements (involuntary movements on one side of the body that mirror voluntary movements made on the opposite side)
• Agenesis (complete or partial absence) of the corpus callosum
• Range of intellectual deficit (normal to borderline impaired)
• Specific cognitive impairments, including language delay or visuospatial deficits, in some individuals
Disease causing variants in both copy of the DCC gene are associated with:
• Horizontal gaze palsy (lack of horizontal movement of the eyes)
• Childhood onset progressive scoliosis (abnormal curvature of the spine)
• Developmental delay
• Intellectual disability
• Seizures
• Hypotonia (decreased muscle tone)
• Mirror movements
• Specific finding on brain imaging, including:
o Agenesis of the corpus callosum
o Absent anterior and hippocampal commissure (parts of the brain that connects the left and right sides of the brain)
o Hypoplastic pons and midbrain (incomplete development or underdevelopment of the brainstem)
o Midline cleft in the brainstem
DCC