| CLATHRIN (CTLC) VARIATION | |
|
617854
OMIM = Online Mendelian Inheritance of Men | |
|
178469 | |
| Clathrin heavy chain 1 | |
| mutation in the CLTC gene | |
| Laboratory findings | 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) 5-Methyltetrahydrofolate (5-MTHF) dec (cerebrospinal fluid) Homovanillic acid (HVA) dec (cerebrospinal fluid) Phenylalanine inc (plasma) |
| Symptoms | ataxia dysmorphism dystonia encephalopathy hypotonia intellectual disability/intellectual developmental disorder learning disability myoclonus onset, adolescent onset, childhood Parkinsonism seizures |