Table 1.

Demographic characterizations and clinical presentations of patients.

Family	This study		Basel-Vanagaite et al. (2006)	Manzini et al. (2014)				McSherry et al. (2018)
Mutation	c.1641+1G>A		IVS13-16DEL	c.748+1G>T, c.346delA				c.811delG
Gender	female	female	8 females, 8 males	Family1 2mals, 2females	Family22males,1females	Family3 3males,1females	Family4	female	female	female
Age (yrs) at examination	35 years	25 years	NA	NA	NA			11year	8 year	5 year
Age (yrs) at present	37 years	27 years	NA	NA	NA			14year	11 year	8 year
ID	+	+	+	+M1,F1,F2	+	+	+	+	+	-
ASD	+	-	-	+M1	+	-	+	+	+	+
Seizures	+	+	-	_	+	-	+	+	-	+
Facial dysmorphism	-	-	-	_	NA	NA	NA	-	-	-
Speech delay	+	+	+	_	+	+	+	-	-	+
Developmental delay	+	+	+	NA	NA	NA	NA	-	+	+
Physical examination	Normal	Normal	Normal except one subject who had progressive microcephaly	NA	NA	NA	NA	Normal	Normal	Normal
Other phenotype	aggressive behavior	aggressive behavior	NA	M2:cognitive problems and aggressive behavior	NA	NA	NA	NA	NA	NA