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256520.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Stillbirth; Severe intrauterine growth retardation; Microcephaly; Micrognathia; Sloping forehead; Proptosis; Generalized edema; Syndactyly; Fetal akinesia sequence; Hypertelorism;
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Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006623.4:c.418G>A
2
Neu-Laxova Syndrome 1
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References
El-Hattab et al. 2016
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