225500.3.1

Country

Sudan

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

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_153717.3:c.1813C>T	2		Ellis-van Creveld Syndrome

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Remarks

Patient was diagnosed prenatally by ultrasound

References

Ali et al. 2010

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
225500.3.2	Sudan		Male	Yes	Yes	Father of 225500.3.1
225500.3.3	Sudan		Female	Yes	Yes	Mother of 225500.3.1