
Warburg Micro Syndrome: Unveiling the Genetic Puzzle
Microcephaly, intellectual disability and distinctive facial features follow mutations in genes such as RAB3GAP1, with osteopenia reported as a further feature.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Microcephaly, intellectual disability and distinctive facial features follow mutations in genes such as RAB3GAP1, with osteopenia reported as a further feature.

Mutations in LRRK2, PRKN, PINK1 and DJ-1 are linked to Parkinson disease starting before age 50, and testing helps separate YOPD from other movement disorders.

Variants in BRAF, RET and RAS help predict how a thyroid tumor behaves and whether targeted therapy fits, with notes on family risk and carotid body tumor cases.

Excess 2-hydroxyglutaric acid in urine can bring developmental delays, seizures and muscle hypotonia; testing separates Type I (L2HGDH) from Type II (IDH2).

Scarring in the tissue around the air sacs stiffens the lungs, and telomere- and surfactant-related mutations are recognised in pulmonary fibrosis.

Without gamma globulins the body cannot fight bacterial infections. X-linked agammaglobulinemia is the most common form, and DNA testing can identify the mutation.

Episodes of paralysis that switch from one side of the body to the other begin before 18 months in AHC, and ATP1A3 analysis can confirm the diagnosis.

When bone marrow stops making enough blood cells, fatigue, infections and bleeding follow, and inherited causes such as Fanconi anemia can be found by DNA testing.