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Table 1 Comparison of two male patients affected with Xp11.22 microdeletion including SHROOM4 and CLCN5

From: Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

 

Patient reported by Armanet et al.

Patient reported here

Xp11.22 microdeletion

+

+

Age

4.5 years

4 years

Speech delay

Severe

+

Global developmental delay

+

mild

Other neurological abnormalities

Hydrocephalus

Short stature

+

+

Microcephaly

+

Facial dysmorphisms

+

+

Dent disease

+

+