218340.1.3

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 Name	Allele Count	Associated Disease
NM_138425.4:c.1A>G	2	Temtamy Syndrome

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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
218340.1.2	United Arab Emirates	Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality	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.