601536.6

Country

Saudi Arabia

HPO Terms

Hearing impairment
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005522.5:c.185del2

Remarks

'Patient A1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
601536.5Saudi ArabiaHearing impairment; Facial grimacingFemaleYesPatient from 'family/pedigree KK' in the publication
601536.7Saudi ArabiaHearing impairment; Global developmental delay; Autistic behavior; Seizure; Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis; Patent ductus arteriosus; Interrupted aortic archFemaleYes'Patient B1' in the publication
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