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.
Intellectual disability.
Moderate intelligence quotient (IQ 35–49).