604213.2.1

Yemen

Bilateral sensorineural hearing impairment; Partial agenesis of the corpus callosum; Arachnoid cyst; Asthma;

Male

Yes

Yes

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
604213.2.2	Yemen	Prelingual sensorineural hearing impairment; Bilateral sensorineural hearing impairment; Hypopigmented skin patches; Partial agenesis of the corpus callosum; Arachnoid cyst;	Male	Yes	Yes	Brother of 604213.2.1