Skip to main content

Table 1 Clinical and neuroimaging features of the four MCPH2 patients

From: The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

Patient II-1 II-2 II-3 II-4
Gender F M M F
Age at assessment (yrs) 59 56 55 53
Clinical features
Height (cm) 158 154 166 154
Height percentile 10-25th <5th 5th 5-10th
Occipito-frontal circumference (cm) 48.5 52 51 48
Occipito-frontal circumference (SD) -4 to -5 SD -2 to -3 SD -3 SD -4 to -5 SD
Sloping forehead + + + +
Intellectual disability Moderate-severe Severe Severe Moderate-severe
Behaviour Pleasant Self injurious behaviour Self injurious behaviour Pleasant
Tone Normal Hypertonia Hypertonia Normal
Sensory exam Normal Normal Normal Normal
Reflexes Normal Hyperreflexia/ankle clonus Hyperreflexia/ankle clonus Normal
Bladder/bowel incontinence +/- +/+ +/+ +/-
Neuroimaging features
Microcephaly + Nd Nd +
Polymicrogyria - Nd Nd -
Cerebellar hypoplasia - Nd Nd -
Cortical thickenng - Nd Nd -
Corpus callosum hypoplasia - Nd Nd -
  1. Abbreviations: F female, M male, nd not determined.