232300.1.2

United Arab Emirates

Ventricular hypertrophy

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000152.4:c.1327-2A>G	2		Glycogen Storage Disease II

Sibling of 232300.1.1. Has unaffected fraternal twin brother. Youngest patient with Pompe disease to receive ERT.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
232300.1.1	United Arab Emirates		Male	Yes	Yes	Pompe disease; Died at 8-months of age.