617560.5.1

Saudi Arabia

Global developmental delay; Axial hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia

Male

Yes

Yes

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

Proband from 'family 5' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617560.5.2	Saudi Arabia	Hypotonia; Encephalopathy; Hepatomegaly; Death in infancy	Female	Yes	Yes	Sister of 617560.5.1