236670.G.1

Country

Lebanon

HPO Terms

Intellectual disability, profound; Type II lissencephaly; Cerebellar malformation; Abnormal retinal morphology; congenital muscular dystrophy; Death in early adulthood

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Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_007171.3:c.314G>A	4		Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1

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Remarks

Two Lebanese patients with typical WWS symptoms

References

van Reeuwijk et al. 2006