610185.1.1

United Arab Emirates; Yemen

Profound sensorineural hearing impairment; Delayed speech and language development; Cerebellar atrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_182548.4:c.472C>T	2		Deafness, Autosomal Recessive 67
NM_001163673.1:c.388C>T	2		Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2

Emirati family of Yemeni origin

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610185.1.2	United Arab Emirates; Yemen	Global developmental delay; Unsteady gait; Impaired social interactions; Cerebellar atrophy	Female	Yes	Yes	Sibling of 610185.1.1