617560.7.2

Country

Saudi Arabia

HPO Terms

Nystagmus; Abnormal central motor function; Hypometric saccades; Severe global developmental delay; Abnormal cerebral white matter morphology; Abnormal CNS myelination

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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_177400.3:c.487C>G	2	NA	Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

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Remarks

Brother of 617560.7.1

References

Chelban et al. 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617560.7.1	Saudi Arabia	Nystagmus; Abnormal central motor function; Hypometric saccades; Severe global developmental delay; Abnormal cerebral white matter morphology; Abnormal CNS myelination	Female	Yes	Yes	Patient from 'family 3' in the publication