Warburg Micro is considered a spectrum disease. While many symptoms are similar, they may be more mild or more severe in each child.
Warburg Micro should be suspected in any child that has congenital cataracts with micropthalmia and significant developmental day, especially in males with hypogandism.
At Birth
Warburg Micro, SPG 69, may go unnoticed at birth. Microcephaly, jaundice and feeding issues range from mild to severe.
All children that have the syndrome are born with congenital cataracts- though medical professionals may miss them if a red reflex test is not done.
- Congenital Cataracts
- Microcephaly
- Jaundice
- Feeding and digestive issues like reflux and constipation
- Smaller than normal genital size
Early Childhood
- Motor skills/ developmental delay- children don't walk, some may speak some words and sit independantly
- Hypotonia
- Progressive spasticity beginning in lower limbs and moving to upper
- Optic nerve atrophy leading to vision loss
- Low bone density
- Short stature
Adolescence and beyond
- Delayed puberty
- Joint contractures
- Respiratory issues
What You Can Do
Handley M, Sheridan E. RAB18 Deficiency. In: GeneReviews®. University of Washington, Seattle, Seattle (WA); 1993. PMID: 29300443. https://www.ncbi.nlm.nih.gov/books/NBK475670/
Last updated: 6/24/2022
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