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214800.1
Home
Subject Details
Country
Lebanon
HPO Terms
Neurodevelopmental delay; Microcephaly; Micropenis; Hydronephrosis; Single umbilical artery; Leukodystrophy
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_017780.4:c.6112G>A
1
CHARGE Syndrome
Download Table
References
Jalkh et al. 2019
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
214800.2
Lebanon
Global developmental delay; Intellectual disability; Abnormal facial shape
Female
No
No
de novo mutation
214800.3
Lebanon
Global developmental delay; Failure to thrive; Abnormal heart morphology
Male
No
No
de novo mutation
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