251300.2.1 - CAGS

251300.2.1

Country

Somalia

HPO Terms

Intellectual disability; Hypotonia; Ataxia; Spasticity; Dystonia; Delayed gross motor development; Feeding difficulties; Delayed speech and language development; Cerebellar atrophy; Brain atrophy; Abnormal myelination; Proteinuria; Ptosis; Myopia; Strabismus; Oculomotor apraxia; Weakness of facial musculature; Joint laxity

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032856.3:c.68T>A	2		Galloway-Mowat Syndrome 1

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References

Vodopiutz et al, 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
251300.2.2	Somalia		Male			Father of 251300.2.1
251300.2.3	Somalia		Female			Mother of 251300.2.1

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.