Table 1.

Clinical characteristics of the proband with a de novo p.Gly403Asp CACNA1D mutation

Sex	Female
Birth weight (gestation)	4.5 kg (37 weeks)
Birth weight percentile	>99th
Current age	9 years 4 months
Hyperinsulinaemic hypoglycaemia
Age at diagnosis	Birth
Insulin at diagnosis	21 μU/mL
Glucose at diagnosis	1.2 mmol/L (22 mg/dL)
Initial treatment (dose) and duration	Diazoxide (13 mg/kg/day) 5.5 years
Current treatment	None
Additional clinical features
Heart defects	Prenatal bradycardia, mild aortic insufficiency
Neuromuscular defects	Severe axial hypotonia and limb spasticity, seizures
Other features	Umbilical Hernia, Hypermetropia. Poor weight gain
Aldosterone (normal range)	9.3 ng/dL (3.4‐27.3)