Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079515.2:c.155_166del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 244460.1 | Saudi Arabia | Hypocalcemia; Abnormal facial shape; Seizure; Global developmental delay; Micrognathia | Female | Yes | Yes | |
| 244460.2 | Saudi Arabia | Failure to thrive; Decreased response to growth hormone stimulation test; Hyperparathyroidism; Deeply set eye | Female | Yes | Yes |