218340.1.3

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  2. Subject Details

Country

United Arab Emirates

HPO Terms

Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Ventriculomegaly; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.1A>G2
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Remarks

Sister of proband.

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
218340.1.1United Arab EmiratesAbnormal facial shape; Hypotonia; Intellectual disability; Autistic behaviorFemaleYesYesProband. Parents are first-cousins
218340.1.2United Arab EmiratesAbnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG AbnormalityFemaleYesYesSister of proband.
218340.1.4United Arab EmiratesFemaleNoHealthy mother of proband.
218340.1.5United Arab EmiratesMaleNoHealthy father of proband.
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.