Orphanet Journal of Rare Diseases

Table 3 Comparison of the clinical features of the patients of two families with DLG3 mutation

From: X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

	Family	D172		Family D301
	III-5	III-8	IV-3	III-5	III-9	IV-3	V-1	V-2
	Male	Male	Male	Male	Male	Male	Male	Male
Clinical features
Intellectual disability	+/MO	+/M	+/MO	+/S	+/S	+/MO	+/MO	+/MO
Delayed motor development	+	ND	+	+	ND	+	+	+
Delayed speech development	+	ND	+	+	+	+	+	+
Eneuresis	+	-	+	+	-	-	+	-
Strabismus	-	-	-	+	-	+	+	-
ADHD	-	-	-	ND	ND	+	+	+
Seizures	-	-	-	+	-	-	-	-
Behavioural problems	-	-	+	+	-	+	-	-

ND→No data, M→Mild, MO→Moderate, S→Severe, +→clinical feature present, -→clinical feature absent.

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ISSN: 1750-1172

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