248800.2.4

Country

Egypt

HPO Terms

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

Associated Disease

Remarks

Maternal aunt of 248800.2.1
Back to search Result
Sex

Female

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
248800.2.3EgyptGlobal developmental delay; Intellectual disability; Progressive muscle weakness; Generalized hypotonia; Cataract; Male hypogonadismMaleYesYesMaternal uncle of 248800.2.1
248800.2.5EgyptFemaleMother of 248800.2.1
Back to search Result
© CAGS 2021. All rights reserved.