Table 1 Summary of the clinical features and gene variants
Patient 1 | Patient 2 | ||
|---|---|---|---|
Gender | Male | Male | |
Age | 8 years | 12 years | |
Stature at birth | |||
Weight (g) | 2368 | 2470 | |
OFC (cm) | 29 | 33 | |
Stature at last examination | |||
Height | [−4.0SD] | [−2.8SD] | |
Weight | [−2.3SD] | [−2.1SD] | |
Early motor developmental delay | Mild | Moderate | |
Standing/walking | 12 mo. | 20 mo. | |
Febrile seizures | + | + | |
Intractable seizures | + | − | |
Pyramidal sign | + | − | |
Dysarthria | + | − | |
Cerebellar signs | + | − | |
Developmental deterioration | + | − | |
Abnormal MRI findings | + | - | |
Cognitive impairment | − | + | |
Intellectual disability | − | + | |
Severe autistic features | − | + | |
Gene variants | |||
HSPD1 p.Leu47Val | + | − | |
HIP1 p.Glu465Lys | − | + | |
MECP2 p.Arg167Trp | + | + | |
