218340.2.1

Country

Kuwait

HPO Terms

Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum

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Sex

Female

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

Proband. Parents are first-cousins.

References

Akizu et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218340.2.2	Kuwait	Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure ; Ventriculomegaly; Abnormality of pattern onset/offset visual evoked potentials; Atrial septal defect; Spasticity; EEG abnormality	Male	Yes	Yes	Sibling of proband.
218340.2.3	Kuwait	Hypotonia; Intellectual disability; Autistic behavior; Seizure; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Esotropia; Atrial septal defect; Spasticity; Pulmonic stenosis; Conductive hearing impairment	Female	Yes	Yes	Sibling of proband.
218340.2.5	Kuwait		Male			Father of proband.