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 Name	Allele Count	Associated Disease
NM_013296.4:c.1055C>A	2	Chudley-McCullough Syndrome

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Remarks

Brother of 604213.2.1

References

Hamzeh et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity
604213.2.1	Yemen	Bilateral sensorineural hearing impairment; Partial agenesis of the corpus callosum; Arachnoid cyst; Asthma;	Male	Yes	Yes