605130.2

Country

United Arab Emirates

HPO Terms

Short stature; Abnormal facial shape; Delayed speech and language development; Failure to thrive; Horseshoe kidney
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Sex

Male

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001197104.1:c.5239C>T1

Remarks

de novo mutation

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
605130.1United Arab EmiratesIntellectual disability; Attention deficit hyperactivity disorder; Abnormal facial shapeFemaleYesNoAffected father and siblings
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