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146000.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Disproportionate short stature; Relative macrocephaly; Hyperreflexia
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Sex
Male
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000142.5:c.1620C>A
1
NA
Hypochondroplasia
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Remarks
De novo mutation
References
Maddirevula et al. 2018
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