617532.1.1

Country

Palestine

HPO Terms

Intellectual disability; Delayed speech and language development; Seizure; Obsessive-compulsive behavior; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion; Patent ductus arteriosus

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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_001379614.1:c.629C>T	2	NA	Intellectual Developmental Disorder with Neuropsychiatric Features

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Remarks

Patient 'A.II-2' in the publication.

References

Srour et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617532.1.2	Palestine	Intellectual disability; Seizure; Autistic behavior; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion; Tics; Scoliosis	Female	Yes	Yes	Patient 'A.II-3' in the publication. Sister of 617532.1.1
617532.1.G	Palestine					Healthy relatives of 617532.1.1 (sister + parents).