218340.1.2 - CAGS

218340.1.2

Country

United Arab Emirates

HPO Terms

Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality

Back to search Result

Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Download Table

Remarks

Sister of proband.

References

Akizu et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218340.1.1	United Arab Emirates	Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior	Female	Yes	Yes	Proband. Parents are first-cousins
218340.1.3	United Arab Emirates	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	Female	Yes	Yes	Sister of proband.
218340.1.4	United Arab Emirates		Female	No		Healthy mother of proband.
218340.1.5	United Arab Emirates		Male	No		Healthy father of proband.

Back to search Result

© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.