613320.1.2

Country

Lebanon

HPO Terms

Global developmental delay; Abnormal facial shape; Short ribs; Cupped ribs; Severe platyspondyly; Squared iliac bones; Hypoplastic ischia; Broad femoral metaphyses;

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_016069.10:c.226A>G	2		Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

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Remarks

Sibling of 613320.1.1

References

Mégarbané et al, 2008;
Mehawej et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613320.1.1	Lebanon	Global developmental delay; Abnormal facial shape; Short ribs; Cupped ribs; Severe platyspondyly; Squared iliac bones; Hypoplastic ischia; Broad femoral metaphyses;	Female	Yes	Yes