100800.G.1

Country

Arab; Algeria; Iraq; Morocco; Palestine; Tunisia; Yemen

HPO Terms

Disproportionate short stature; Macrocephaly; Abnormality of the skull base; Midface retrusion; Depressed nasal bridge; Hyperlordosis; Small hand; Limited elbow extension
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000142.4:c.1138G>C30

Remarks

Group comprising of 30 subjects from Algeria, Iraq, Morocco, Palestine, Tunisia and Yemen
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