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248200.11
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Alternating esotropia; Myopia; Macular scar; Global developmental delay; Generalized hypotonia; Feeding difficulties; Recurrent lower respiratory tract infections; Abnormal facial shape; Leukodystrophy
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000350.3:c.749del
2
Stargardt Disease 1
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References
Alabdullatif et al. 2017
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
248200.12
United Arab Emirates
Retinal dystrophy
Unknown
No
248200.13
United Arab Emirates
Macular dystrophy
Unknown
No
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