Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016648.4:c.1024_1030dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615071.2.1 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Kyphoscoliosis | Male | Yes | Yes | |
| 615071.2.2 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Scoliosis | Female | Yes | Yes | Sibling of 615071.2.1 |
| 615071.2.3 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Self-mutilation | Male | Yes | Yes | Relative of 615071.2.1 |
| 615071.2.5 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | Male | Yes | Yes | Sibling of 615071.2.3 |
| 615071.2.6 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendon | Female | Yes | Yes | Relative of 615071.2.1 |
| 615071.2.7 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape; Abnormality of the Achilles tendon; Self-mutilation | Male | Yes | Yes | Sibling of 615071.2.6 |
| 615071.2.8 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | Female | Yes | Yes | Sibling of 615071.2.6 |
| 615071.2.9 | Saudi Arabia | Severe postnatal growth retardation; Intellectual disability, severe; Abnormal facial shape | Female | Yes | Yes | Sibling of 615071.2.6 |