| CYSTINE-LYSINURIA | |
| DIAMINOPENTANURIA | |
|
222350
OMIM = Online Mendelian Inheritance of Men | |
| new disease ? | |
| Laboratory findings | Cystine inc (urine) L-Lysine inc (urine) 1,5-Diaminopentan inc (urine) |
| Symptoms | ataxia EEG abnormalities [-] hypertonia, spasticity intellectual disability/intellectual developmental disorder seizures |