615033.1

Country

Oman

HPO Terms

Intellectual disability; Strabismus; Dysarthria; Constipation; Upper limb spasticity; Spastic paraplegia; Hyperreflexia; Distal muscle weakness; Thin corpus callosum; Periventricular white matter hyperintensities

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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_015214.3:c.1546C>T	2		Spastic Paraplegia 54, Autosomal Recessive

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Remarks

Has one sibling and four cousins who are similarly affecetd

References

Al-Yahyaee et al. 2006;
Schuurs-Hoeijmakers et al. 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615033.2	Oman	Spastic paraplegia	Unknown