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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015214.3:c.1546C>T2

Remarks

Has one sibling and four cousins who are similarly affecetd

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615033.2OmanSpastic paraplegiaUnknown
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