218340.4.2

Country

Palestine

HPO Terms

Abnormal facial shape; Hypotonia; Microcephaly; Microphthalmia; Iris coloboma; Intellectual disability; Autistic behavior; Seizure; Spasticity; Diabetes mellitus; Abnormality of toe; Agenesis of corpus callosum; Abnormal thalamic size; Hypoplastic anterior commissure; Abnormal third ventricle morphology; Abnormal cerebral white matter morphology; Atrial septal defect; Ventriculomegaly; Optic atrophy

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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

Sibling of proband.

References

Akizu et al. 2013

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
218340.4.1	Palestine	Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; Spasticity; Abnormality of toe; Hyperglycemia; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy	Male	Yes	Yes	Proband.
218340.4.3	Palestine		Female			Mother of proband.
218340.4.4	Palestine		Male			Father of proband.