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Table 1 Clinical features of DGDP084 compared with other patients having small-sized microdeletions within the Xq22.2 interval

From: A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Clinical features DGDP084 Yamamoto Torisu Inoue 2002 Inoue 2002 Inoue 2002 Matsufuji 2013
   2014 Pt5 2012 Pt 1 Pt 2 Pt 3 Pt II-1
  F F M M M M M
Intellectual disability + + + + + + +
Speech delay + + + NS + + +
Motor delay + + + + + + +
Impaired social skills + + - NS + NS +
Sleep disturbance + + NS NS NS NS NS
Behavioral problems + + NS NS NS NS NS
Seizures + - NS NS - NS -
Craniofacial anomalies + + + NS NS NS NS
Tapering fingers & clinodactyly + - NS NS NS NS NS
Brain MRI – delayed myelination - + + + + NS +
Cardiac anomalies + - NS NS NS NS NS
Gastrointestinal problems + - NS NS NS + +
  1. NS not stated, Pt patient, F represents female while M denotes male