617532.2.2

Country

United Arab Emirates

HPO Terms

Failure to thrive; Global developmental delay; Coarctation of aorta; Triangular face; Hypertelorism; Smooth philtrum; Thin upper lip vermilion; Depressed nasal bridge; Facial hemangioma

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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_001379614.1:c.526C>T	2	NA	Intellectual Developmental Disorder with Neuropsychiatric Features

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Remarks

Patient 'B.II-4' in the publication. Brother of 617532.2.1

References

Srour et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617532.2.1	United Arab Emirates	Global developmental delay; Delayed speech and language development; Seizure; Unilateral renal agenesis; Triangular face; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion	Male	Yes	Yes	Patient 'B.II-3' in the publication.
617532.2.G	United Arab Emirates					Healthy relatives of 617532.2.1 (2 brothers + parents).