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

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000142.4:c.1138G>C	30		Achondroplasia

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Remarks

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

References

Falik-Zaccai et al. 2000