Clinical Characteristics for Families

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