258900.1.1

Country

United Arab Emirates

HPO Terms

Very preterm birth; Failure to thrive; Recurrent infections; Abnormal lymphocyte count; Abnormal immunoglobulin level; Anemia; Leukopenia; Thrombocytopenia; Seizure; Polymicrogyria; Abnormal periventricular white matter morphology; Orotic acid crystalluria

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000373.4:c.1010C>G	2	NA	Orotic Aciduria

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Remarks

Proband

References

Al Absi et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
258900.1.2	United Arab Emirates		Male			Father of 258900.1.1
258900.1.3	United Arab Emirates		Female			Mother of 258900.1.1