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615510.1
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Episodic vomiting; Achalasia; Global developmental delay; Failure to thrive; Short stature; Generalized hypotonia; Strabismus; Alacrima; Abnormal facial shape
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_013335.4:c.922G>A
2
Alacrima, Achalasia, and Mental Retardation Syndrome
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References
Alabdullatif et al. 2017
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