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

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

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