616354.8.2

Country

Egypt

HPO Terms

Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Coarse facial features; Hepatosplenomegaly

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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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Remarks

Brother of 616354.8.1

References

Akizu et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616354.8.1	Egypt	Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Coarse facial features; Hepatosplenomegaly; Patent ductus arteriosus	Male	Yes	Yes