248800.2.3

Country

Egypt

HPO Terms

Global developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Male hypogonadism

Associated Disease

Remarks

Maternal uncle of 248800.2.1
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
248800.2.1EgyptGlobal developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; AtaxiaFemaleYesYesProband
248800.2.2EgyptGlobal developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; AtaxiaFemaleYesYesSister of 248800.2.1
248800.2.4EgyptGlobal developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; CataractFemaleYesYesMaternal aunt of 248800.2.1
248800.2.5EgyptFemaleMother of 248800.2.1
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