NEUROBLASTOMA, SUSCEPTIBILITY TO | |
NEUROBLASTOMA | |
256700
OMIM = Online Mendelian Inheritance of Men | |
635 | |
Kinesin-like protein KIF1B | |
17q21.32, 1p36.22 |
|
C74.9 | |
rare autosomal dominant mutations in the KIF1B gene | |
Laboratory findings | Dopamine inc (urine) Homovanillic acid (HVA) inc (urine) Vanillylmandelic acid (VMA) inc (urine) |
Symptoms | anemia ataxia diarrhea failure to thrive fever hepatomegaly (large liver) hypertension myoclonus onset, infancy onset, neonatal pain, abdominal pain, bones or joints |