Skip to main content

Table 1 Comparison of patient clinical features

From: Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

  Patient 1
Patient 2
Patient 3 Patient 4
Patient 5
Previously published - - Patient 5 in Wright et al., 2011 [18] - Patient 6 in Wright et al., 2011 [18]
Age at assessment 8y 2y 6y 10m 5y 8y 2m
Height centile 50th 10-25th 25th 3rd 2nd
Weight centile 50-75th 25th 50-75th 25th 2nd
Head circumference 50-98th 25th 50-98th 25th 50th
Heel Fat pads + + + + +
Fetal finger and toe pads + + + NR +
Fifth nail hypoplasia - - - - -
Hirsutism - - - - +
ID Mod Mod Mild Mod Mod
Speech Absent Absent Delayed Absent Delayed
Seizures - + - + -
Drooling + + + - +
Feeding difficulty + - Mild - -
Scoliosis - - - - +
Inguinal hernia - - - - -
Neuroimaging Mega cisterna magna on brain MRI Normal brain MRI Hypoplastic posterior elements of corpus callosum on MRI Head CT in first year of life, normal Normal