232300.7

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Country

Lebanon

HPO Terms

Dark urine; Recurrent respiratory infections; Exertional dyspnea; Cyanosis
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000152.4:c.670C>T1
NM_000152.4:c.1064T>C1
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Remarks

Patient with both Pompe disease and Alkaptonuria

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
232300.8LebanonUnknown
232300.9LebanonCardiomyopathy
232300.10LebanonGlobal developmental delay; HypotoniaFemaleNoYes
232300.11LebanonGlobal developmental delay; HypotoniaFemaleNoYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.