Conditions / Syndrome
mosaic variegated aneuploidy syndrome 3
info · Syndrome
A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein.
Signs and symptoms
- Short stature
- Premature chromatid separation
- Nephroblastoma
- Microcephaly
- Global developmental delay
- Growth delay
- Cleft palate
- Few cafe-au-lait spots
- Seizure
- Deeply set eye