615942.1.1

  1. Home
  2. Subject Details

Country

United Arab Emirates; Yemen

HPO Terms

Intellectual disability, severe; Autistic behavior; Focal-onset seizure; Abnormal facial shape; Hydrocephalus
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001080510.5:c.169_172del2
Download Table

Remarks

Large family, spread over UAE and Saudi Arabia

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615942.1.2United Arab Emirates; YemenIntellectual disability, moderate; Generalized myoclonic-tonic-clonic seizure; Abnormal facial shape; Shawl scrotumMaleYesYesSibling of 615942.1.1
615942.1.3United Arab Emirates; YemenIntellectual disability, moderate; Muscular hypotinia; Abnormal facial shape; Cleft palate; Flattened epiphysisFemaleYesYesSibling of 615942.1.1
615942.1.4United Arab Emirates; YemenIntellectual disabilityFemaleYesYesSecond cousin of 615942.1.1
615942.1.5United Arab Emirates; YemenIntellectual disabilityFemaleYesYesSecond cousin of 615942.1.1
615942.1.6United Arab Emirates; YemenIntellectual disabilityFemaleYesYesSecond cousin of 615942.1.1
615942.1.7United Arab Emirates; YemenIntellectual disabilityFemaleYesYesSecond cousin of 615942.1.1
615942.1.8United Arab Emirates; YemenFemaleMother 615942.1.1
615942.1.9United Arab Emirates; YemenMaleFather 615942.1.1
615942.1.10United Arab Emirates; YemenFemaleMother 615942.1.4
615942.1.11United Arab Emirates; YemenMaleFather 615942.1.4
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.