Table 3 Confirmed etiological diagnoses after assessment by the multidisciplinary team
Diagnosis | N |
|---|---|
Inherited etiologies | 20 |
Monogenic | |
ACTB mutation | 1 |
CTNNB1 mutation | 1 |
GLRA1 mutation | 1 |
GOSR2 mutation | 6 |
HSD17B10 mutation | 1 |
MECP2 mutation | 1 |
OFD-1 mutation | 1 |
OTC-deficiency | 1 |
PRRT2 mutation | 1 |
SPTBN2 mutation | 1 |
TH mutation | 1 |
TITF-1 mutation | 1 |
Laboratory abnormalities | |
Non-ketotic hyperglycinemia | 1 |
Syndrome diagnosis | |
Gilles de la Tourette | 1 |
Linear naevus syndrome | 1 |
Acquired etiologies | 4 |
Drug-induced | 1 |
Functional | 3 |