Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_080647.1:c.1158_1159delinsT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 188400.1.2 | Saudi Arabia | Hypertelorism; Chvostek sign; Seizure; Hypocalcemia; Downslanted palpebral fissures; Bulbous nose; Low-set ears | Male | Yes | No | Sibling of proband |
| 188400.1.3 | Saudi Arabia | Otitis media; Seizure; Hypocalcemia | Female | Yes | No | Sibling of proband |
| 188400.1.4 | Saudi Arabia | Hypoparathyroidism; Conductive hearing impairment; Seizure; Facial asymmetry; Bulbous nose; Nasal speech | Male | Yes | No | Father of proband. Siblings, parents, and spouse are healthy. Spouse lacks the implicated variant. |