601536.7

Country

Saudi Arabia

HPO Terms

Hearing impairment; Global developmental delay; Autistic behavior; Seizure; Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis; Patent ductus arteriosus; Interrupted aortic arch

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005522.5:c.175dup	2		Athabaskan Brainstem Dysgenesis Syndrome

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Remarks

'Patient B1' in the publication

References

Bosley et al. 2008

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
601536.5	Saudi Arabia	Hearing impairment; Facial grimacing	Female		Yes	Patient from 'family/pedigree KK' in the publication
601536.6	Saudi Arabia	Hearing impairment	Male		Yes	'Patient A1' in the publication