616354.2.2

Country

United Arab Emirates

HPO Terms

Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia; Myopia

Back to search Result

Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153816.6:c.1132C>T	2		Spinocerebellar Ataxia, Autosomal Recessive 20

Download Table

Remarks

Sister of 616354.2.1

References

Akizu et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616354.2.1	United Arab Emirates	Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia; Atrial septal defect	Female	Yes	Yes
616354.2.3	United Arab Emirates	Intellectual disability; Motor delay; Absent speech; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Sensorineural hearing impairment; Macroglossia	Male	Yes	Yes	Brother of 616354.2.1