613154.1

Saudi Arabia

Severe hydrocephalus; Highly elevated creatine kinase; Abnormality of the eye

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_133642.5:c.1792G>A	2		Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6

Subject had three paternal aunts and one paternal uncle that had hydrocephalus and blindness. All four were deceased