300908.11

Country

United Arab Emirates

HPO Terms

Decreased glucose-6-phosphate dehydrogenase level in blood

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
Chatham NM_001360016.2:c.1003G>A1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
300908.8United Arab EmiratesDecreased glucose-6-phosphate dehydrogenase level in bloodMale
300908.12United Arab EmiratesDecreased glucose-6-phosphate dehydrogenase level in blood; Autistic behavior; Global developmental delayMaleYesYesIn addition to the G6PD variant, the patient was identified with a variant of uncertain significance in TSC2 gene that could have an effect on his overall phenotype.
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