616354.3.1

Country

Egypt

HPO Terms

Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Macroglossia

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Sex

Male

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

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References

Akizu et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616354.3.2	Egypt	Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Retrocerebellar cyst; Macroglossia	Male	Yes	Yes	Brother of 616354.3.1