218340.3.2

Country

Libya

HPO Terms

Abnormal facial shape; Intellectual disability; Autistic behavior; Hypotonia; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

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

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Remarks

Sibling of proband.

References

Akizu et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218340.3.1	Libya	Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure; Spasticity; Atrial septal defect	Male	Yes	Yes	Proband.
218340.3.3	Libya		Female			Mother of proband.
218340.3.4	Libya		Male			Father of proband.