Table 4.

Four Patients with Dual Molecular Diagnoses.

Inheritance	Gene	Disease
Patient 1
Autosomal dominant	SETBP1	Schinzel–Giedion syndrome
Autosomal recessive	CLCN1	Myotonia congenita
Patient 2
Autosomal recessive	TREX1	Aicardi–Goutieres syndrome
X-linked	PHEX	Hypophosphatemic rickets
Patient 3
Autosomal recessive	RAPSN	Congenital myasthenic syndrome
Autosomal dominant	ABCC9	Dilated cardiomyopathy with ventricular tachycardia
Patient 4
Autosomal recessive	POMT2	Muscular dystrophy–dystroglycanopathy
Autosomal dominant	SCN2A	Seizure disorder