616354.4.2

Country

Egypt

HPO Terms

Intellectual disability; Motor delay; Absent speech; Autistic behavior; No social interaction; Seizure; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153816.6:c.1182del	2		Spinocerebellar Ataxia, Autosomal Recessive 20

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Remarks

Sister of 616354.4.1

References

Akizu et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616354.4.1	Egypt	Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Hypotonia; Nystagmus; Inability to walk; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Kyphoscoliosis; Hypertrichosis; Skeletal muscle atrophy	Male	Yes	Yes
616354.4.3	Egypt	Intellectual disability; Motor delay; Absent speech; Autistic behavior; Delayed social development; Seizure; Hypotonia; Nystagmus; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Joint stiffness; Scoliosis; Pectus carinatum; Macroglossia; Hypertrichosis; Skeletal muscle atrophy	Female	Yes	Yes	Sister of 616354.4.1