Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000875.4:c.700G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 270450.2.1 | Lebanon | Intrauterine growth retardation; Postnatal growth retardation; Decreased body weight; Short stature; Abnormality of the face; Mild global developmental delay; Increased serum insulin-like growth factor 1; Elevated circulating growth hormone concentration; Diabetes mellitus; Intellectual disability, mild; Lumbar hyperlordosis; Reduced bone mineral density | Male | Yes | Yes | Proband. Onset of diabetes mellitus may not be associated with the genotype. |
| 270450.2.2 | Lebanon | Intrauterine growth retardation; Postnatal growth retardation; Decreased body weight; Short stature; Abnormality of the face; Mild global developmental delay; Increased serum insulin-like growth factor 1; Strabismus; Clinodactyly; Cafe-au-lait spot; Trichilemmal cyst; Non-Hodgkin lymphoma; Death in childhood | Female | Yes | Yes | Sister of patient 270450.2.1 |
| 270450.2.4 | Lebanon | Female | No | Mother of patient 270450.2.1 |