248200.11

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

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