616313.1

United Arab Emirates

Motor delay; Generalized hypotonia; Pulmonary venous hypertension; Seizure; Autistic behavior

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000747.3:c.865G>A	1		Myasthenic Syndrome, Congenital, 2A, Slow-Channel

Father had paranoid schizophrenia