609706.2.1

Country

United Arab Emirates

HPO Terms

Moderate hearing impairment; Disproportionate short-limb short stature; Mandibular aplasia; Postaxial polydactyly; Shortening of all distal phalanges of the fingers; Lower limb asymmetry; Broad toe; Pes planus; Secondary amenorrhea; Cone-shaped epiphysis; Fibular hypoplasia; Bilateral sensorineural hearing impairment

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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_147127.5:c.2653C>T	2		Ellis-van Creveld Syndrome
NM_080680.3:c.966dup	2		Deafness, Autosomal Recessive 53

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Remarks

Dual diagnosis of non-syndromic hearing loss and Ellis-van Creveld Syndrome. 7 affected relatives with either or both disorders, including two deceased. Healthy parents.

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
609706.2.2	United Arab Emirates		Female		Yes	Healthy sister of 609706.2.1.
609706.2.3	United Arab Emirates		Female		No	Healthy mother of 609706.2.1.