272750.2.1

Country

Saudi Arabia

HPO Terms

Pseudobulbar signs; Spastic tetraparesis; Limb dystonia; Abnormal pyramidal sign; Chorea; Glabellar reflex; Loss of ambulation; Expressive aphasia; Cerebral atrophy; Death in early adulthood

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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_000405.5:c.164C>T	2	NA	GM2-Gangliosidosis, AB Variant

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Remarks

'Patient 1' in the publication

References

Salih et al. 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
272750.2.2	Saudi Arabia	Spastic tetraparesis; Limb dystonia; Chorea; Glabellar reflex; Scoliosis; Brain atrophy; Mental deterioration; Hypokinesia	Female	Yes	Yes	Sister of 272750.2.1
272750.2.3	Saudi Arabia	Chorea; Brain atrophy; Dysarthria; Spastic gait; Dystonia; Expressive aphasia; Hypokinesia	Male	Yes	Yes	Cousin of 272750.2.1