617560.2

Country

Kuwait

HPO Terms

Flexion contracture; Global developmental delay; Developmental regression; Axial hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia; Visual impairment; Abnormal cerebral white matter morphology; Abnormal myelination; Leukodystrophy

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Sex

Female

Family History

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 2' in the publication

References

Baldi et al. 2018