Clinical Activities

Primary interests

Dr. Kimonis provide consultative services to local pediatricians, family practitioners, obstetricians, and specialists in the diagnosis and management of children and adults with dysmorphic, neurodegenerative, and metabolic disorders. Patients of extreme complexity in addition to cases with metabolic disorders are evaluated and treated at UC Irvine Medical Center, and CHOC (Children’s Hospital of Orange County). Multidisciplinary clinics have been developed for many genetic disorders.

• Dysmorphology
• Inborn metabolic disorders
• Neuromuscular disorders including
  • Inclusion body myopathy
• Lysosomal storage disorders      
  • Pompe
  • Fabry
  • Gaucher
• Prenatal diagnoses
• Complex genetic syndromes:
  • Autism
  • Prader Willi syndrome
  • Ehlers Danlos
  • Many genetic syndromes