Patient | Gender | Age at onset (years) | Age at diagnosis (years) | Current age (years) | Parental consanguinity | Family history | Comorbidities |
---|---|---|---|---|---|---|---|
P1 | Male | 0.83 | 5 | 7.8 | 1st cousins | Younger brother has PKC Elder brother has learning difficulties | Speech delay |
P2 | Female | 2 | 9 | 12 | No | No | Learning difficulties |
P3 | Male | Since birth | 1.5 | 4.5 | 1st cousins | No | Recurrent chest infections Feeding difficulties Failure to thrive |
P4 | Male | 5 | 13 | 17.7 | 1st cousins | Elder brother and maternal aunt had spasticity and ichthyosis | Speech difficulties Failure to thrive |
P5 | Male | 6 | 16 | 20 | 1st cousins | Mother’s sister had facial twitching movements | Dysphagia and recurrent chest infections during childhood |
P6a | Female | 2.1 | 4 | 6 | 1st cousins | Maternal grandmother had hypoglycemia | Strabismus Failure to thrive |