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614563.2
Home
Subject Details
Country
Syria
HPO Terms
Talipes equinovarus; Global developmental delay; Poor head control; Secondary microcephaly; Seizure; Hypotonia; Developmental cataract; Cortical dysplasia
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001376.5:c.10973G>A
1
Mental Retardation, Autosomal Dominant 13
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Remarks
de novo mutation
References
Hertecant et al. 2016
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