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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 + +