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309000.2
Home
Subject Details
Country
Morocco
HPO Terms
Psychomotor retardation; Cataract; Glaucoma; Axial hypotonia; Acidosis; Proteinuria;
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Sex
Male
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000276.3:c.827T>C
1
Lowe Oculocerebrorenal Syndrome
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Remarks
De novo mutation
References
Chabaâ et al. 2006
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