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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