617560.5.2

Saudi Arabia

Hypotonia; Encephalopathy; Hepatomegaly; Death in infancy

Female

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

Sister of 617560.5.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617560.5.1	Saudi Arabia	Global developmental delay; Axial hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia	Male	Yes	Yes	Proband from 'family 5' in the publication