225500.4.1

Country

United Arab Emirates; Yemen

HPO Terms

Short upper lip; Short lingual frenulum; Abnormality of the alveolar ridges; Short nose; Long philtrum; Hand polydactyly; Mesomelia; Narrow chest; Aplasia/Hypoplasia of the nails; Short ribs; Short iliac bones; Common atrium

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Sex

Female

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_147127.5:c.2047-1G>T	2		Ellis-van Creveld Syndrome

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Remarks

Patient is from an Emirati family of Yemeni origin. She was diagnosed prenatally

References

Ali et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225500.4.2	United Arab Emirates; Yemen		Male	No	Yes	Father of 225500.4.1
225500.4.3	United Arab Emirates; Yemen		Female	No	Yes	Mother of 225500.4.1