601536.3.1

Saudi Arabia

Hearing impairment; Motor delay; Pendular nystagmus

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005522.5:c.175dup	2		Athabaskan Brainstem Dysgenesis Syndrome

Patient from 'family/pedigree LG' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
601536.3.2	Saudi Arabia	Hearing impairment; Motor delay; Chronic constipation; Facial grimacing; Abnormal location of ears	Female	Yes	Yes	Sister of 601536.3.1
601536.3.G	Saudi Arabia					Relatives of 601536.3.1 (parents + 5 sisters).