604213.2.2

Country

Yemen

HPO Terms

Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment; Hypopigmented skin patches; Partial agenesis of the corpus callosum; Arachnoid cyst;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_013296.4:c.1055C>A2

Remarks

Brother of 604213.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604213.2.1YemenBilateral sensorineural hearing impairment; Partial agenesis of the corpus callosum; Arachnoid cyst; Asthma;MaleYesYes
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