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620327.2.3
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Subject Details
Country
Tunisia
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Sex
Female
Subject Variants
Variant Name
Allele Count
NM_001001683.4:c.325C>T
1
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Remarks
Mother of 620327.2.1
References
Calì et al. 2022
Related Subjects
Subject Id
Country
HPO Terms
Sex
Parental Consanguinity
Remarks
620327.2.1
Tunisia
Intrauterine growth retardation; Axial hypotonia; Lower limb hypertonia; Fasciculations; Tremor; Cerebral atrophy; Diffuse white matter abnormalities; Neonatal death
Female
No
Patient from "family D" in the publication
620327.2.2
Tunisia
Male
Father of 620327.2.1
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العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us