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236670.1
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Subject Details
Country
Qatar
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.1456delT
2
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
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References
van Reeuwijk et al. 2006
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