Neurogenomics Conditions & Services

As one of the few pediatric clinics in the country that specializes in the diagnosis and care of patients with known or suspected genetic disorders affecting the brain, the Stanford Children’s Health Neurogenomics Clinic provides expertise in severe epilepsy syndromes, microcephaly, brain malformations, complex movement disorders, and many other rare or undiagnosed neurologic conditions. We also work closely with the Neurometabolic Clinic in diagnosing and treating mitochondrial disorders, leukodystrophies (disorders of white matter), and other conditions related to problems with the cells’ ability to break down and process nutrients.

Our neurogenomics team works with each family to use the patient’s history, the family’s history, medical examination, imaging, and genetic and biochemical tests to arrive at a diagnosis and determine the best available treatment course. During each visit, you will meet with a physician specialist and a genetic counselor. Often, additional members of our care team will also be present. We also offer an on-staff social worker to help you navigate the complexities of these disorders.

Conditions we diagnose and/or evaluate include:

  • Genetic epilepsy syndromes
  • Rare neurologic disorders caused by single-gene mutations, including FOXG1 syndrome and NGLY1 deficiency
  • Complex movement disorders, including dystoniachorea and other hyperkinetic/paroxysmal movements
  • Microcephaly and other brain malformations
  • Leukodystrophies (disorders of cerebral white matter), including:

Some related disorders may be best evaluated by other clinics at Stanford Medicine Children’s Health.

These may include: