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614039.1
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Subject Details
Country
Jordan
HPO Terms
Intellectual disability; Microcephaly; Cerebral palsy; Strabismus; Hydrocephalus
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006086.4:c.136C>T
1
Cortical Dysplasia, Complex, with other Brain Malformations 1
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Remarks
de novo mutation
References
Froukh. 2017
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