Table 1 Cases clinical features
From: Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy
case 1 | case 2 | |
|---|---|---|
Sex | Female | Male |
Age(months) | 47 | 2 |
Height(cm) | 95 | 58 |
Weight(kg) | 11 | 4.35 |
BW | 3.85KG | 3.12KG |
Gestational age | ——— | 38 + 3 W |
Deformities of limb development | Developmental Dysplasia of the Hip | Umbilical hernia |
Muscle tone | low | low/Muscle tone is high after seizures |
Other systematic examinations | normal | normal |