HYDROXYLYSINURIA | |
236900
OMIM = Online Mendelian Inheritance of Men | |
79156 | |
unknown |
|
E72.3 | |
very rare autosomal recessive | |
Laboratory findings | Hydroxylysine inc (urine) |
Symptoms | Amino acids, urine behavior, hyperactive, restless mental retardation myoclonus no clinical symptoms (probably) onset, childhood onset, infancy seizures |