617560.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Developmental regression; Horizontal nystagmus; Spastic tetraplegia; Visual impairment; Abnormal cerebral white matter morphology; Abnormal 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.196del	2		Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

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Remarks

Proband from 'family 1' in the publication. He has 3 similarly affected siblings

References

Baldi et al. 2018