300908.12

Country

United Arab Emirates

HPO Terms

Decreased glucose-6-phosphate dehydrogenase level in blood; Autistic behavior; Global developmental delay

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
Mediterranean NM_001360016.2:c.563C>T	1		Anemia, Nonspherocytic Hemolytic, due to G6PD Deficiency
NM_000548.5:c.1754G>A	1	NA

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Remarks

In 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.

References

Mahfouz et al. 2020

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
300908.8	United Arab Emirates	Decreased glucose-6-phosphate dehydrogenase level in blood	Male
300908.11	United Arab Emirates	Decreased glucose-6-phosphate dehydrogenase level in blood