617560.4.1

Country

Oman

HPO Terms

Abnormal facial shape; Flexion contracture; Global developmental delay; Axial hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia; Seizure; Visual impairment; Abnormal myelination; Hypoplasia of the corpus callosum; Brain 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_177400.3:c.487C>G	2		Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

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Remarks

Proband from 'family 4' in the publication

References

Baldi et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617560.4.2	Oman	Hirsutism; Global developmental delay; Axial hypotonia; Horizontal nystagmus; Spastic tetraplegia; Seizure; Ventriculomegaly	Male	Yes	Yes	Brother of 617560.4.1