Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080680.3:c.966dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609706.2.1 | United Arab Emirates | 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 | Female | Yes | Yes | 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. |
| 609706.2.3 | United Arab Emirates | Female | No | Healthy mother of 609706.2.1. |