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218340.1.4
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Subject Details
Country
United Arab Emirates
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
NM_138425.4:c.1A>G
1
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Remarks
Healthy mother of proband.
References
Akizu et al. 2013
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
218340.1.1
United Arab Emirates
Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior
Female
Yes
Yes
Proband. Parents are first-cousins
218340.1.2
United Arab Emirates
Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality
Female
Yes
Yes
Sister of proband.
218340.1.3
United Arab Emirates
Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Ventriculomegaly; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure
Female
Yes
Yes
Sister of proband.
218340.1.5
United Arab Emirates
Male
No
Healthy father of proband.
Back to search Result
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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