266270.1.2

Country

Lebanon

HPO Terms

Gingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ; Short stature;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_133171.5:c.1817T>G2

Remarks

Sibling of 266270.1.1; decesaed

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
266270.1.1LebanonGingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ;FemaleYesYes
266270.1.3LebanonMaleFather of 266270.1.1
266270.1.4LebanonFemaleMother of 266270.1.1
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