225500.5.1

Country

Egypt

HPO Terms

Short upper lip; Short lingual frenulum; Abnormality of the alveolar ridges; Natal tooth; Short nose; Long philtrum; Hand polydactyly; Mesomelia; Narrow chest; Aplasia/Hypoplasia of the nails; Short ribs; Short iliac bones; Atrioventricular canal defect

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Sex

Female

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_147127.5:c.981delG	2		Ellis-van Creveld Syndrome

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References

Ali et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225500.5.2	Egypt		Male	Yes	No	Father of 225500.5.1
225500.5.3	Egypt		Female	No	No	Mother of 225500.5.1