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

Table 1 Overview of the clinical features of the previous and present families with Allan-Herndon-Dudley syndrome

Clinical findings	Clinical findings reported previously	D299	L107
Short stature	+	+	-
Scoliosis	+	+	+
Low weight	+	+	+
Microcephaly	+	+	-
Muscle hypoplasia	+	+	NA
Hypotonia	+	+	NA
Contractures	+	+	NA
Dystonic movements	+	+	+
Athetosis	+	+	+
Intellectual disability	+	+/S	+/MO/S
Absent speech	+	+	+
Dysarthria/Limited speech	+	+	+
Seizures	+	+	NA
Pectus excavatum	+	+	NA
Narrow long face	+	-	+
Round face	+	+	-
Valgus	+	+	NA
Hyperreflexia	+	+	NA
Simple ears	+	+	-
Cupped ears	+	-	+
Spastic quadriplegia	+	+	-

MO→Moderate, S→Severe, NA→No data available,+→clinical feature present, -→clinical feature absent.

ISSN: 1750-1172