166210.3

Country

Saudi Arabia

HPO Terms

Lethal skeletal dysplasia; Limb undergrowth; Micromelia; Narrow chest; Stillbirth
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000089.4:c.1747G>C1

Remarks

Test sample from fetus
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