| 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 |