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. 2012 Dec 19;21(8):844–849. doi: 10.1038/ejhg.2012.257

Table 1. Clinical and phenotypic features of affected individuals of PKMR13.

Patient ID III:3 III:4
Gender F M
Age 34 32
IDa level Moderateb Moderateb
Speech Not understandable Not understandable
Eye abnormality Night blindness No
Epilepsy Yes Yes
Hypotonic Yes Yes
Gait Balance problem Balance problem
Behavioral problems Aggressive Aggressive
Weight (kg) 62 90
Height (inches) 63 71
Head circumference (cm) 53.5 56.5

Abbreviations: F, female; M, male.

a

Intellectual disability.

b

Moderate intelligence quotient (IQ 35–49).