Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

Table 3 A review of the literature on the NM_001278116.2(L1CAM): c.925G > A (p. Glu309Lys) variant

NM_001278116.2(L1CAM): c.925G > A (p. Glu309Lys)		Intellectual disability	Adducted thumbs	Spastic paraplegia	Aphasia	Hydrocephalus	Behavior problems	Dysmorphic features
Jouet et al. (1995) [20]		Yes	Yes	Yes	Yes	Yes	-	-
Straussberg et al. (1991) [19]		Yes	Yes	Yes	No	-	-	-
Patients in this study	A	Yes	No	Yes	Yes	Yes	Yes	Yes
Patients in this study	B	Yes	No	Yes	Yes	Yes	Yes	Yes

ISSN: 1755-8794