Table 1 Comparison of phenotypes in F162 and PKMR65 families
F162 | PKMR65 | ||||
|---|---|---|---|---|---|
IV:1 | IV:8 | VI:2 | VI:3 | VI:6 | |
Age at last evaluation (years) | 10.5 | 21 | 25 | 20 | 7 |
Gender | Female | Male | Female | Female | Female |
Consanguinity | Yes | Yes | Yes | Yes | Yes |
Weight (kg) | 30 | 46 | 40 | 50 | 18 |
Height (cm) | 140 | 160 | 149.9 | 154.9 | 109.2 |
Head circumference (cm) | 50 microcephaly (<3rd percentile) | 51 microcephaly (<3rd percentile) | 53.3 normal | 52 microcephaly (<3rd percentile) | 47 microcephaly (<3rd percentile) |
Cognition and intellectual ability | Severe impairment | Severe impairment | Severe impairment | Severe impairment | Moderate impairment |
Speech | Slurred speech | Slurred speech | Absent speech | Absent speech | Absent speech |
Motor milestones | Delayed | Delayed | Delayed | Delayed | Delayed |
Epilepsy | No | Uncontrolled epilepsy | No | No | No |
Muscular abnormality | No | No | Spastic hypertonia | Spastic hypertonia | No |
Behavioral problems | Aggressive | Aggressive | Aggressive | Aggressive | Aggressive |
