Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012448.4:c.1892G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 245590.1.1 | United Arab Emirates | Growth delay; Premature birth; Pneumonia; Sepsis; Recurrent pneumonia; Recurrent urinary tract infections; Feeding difficulties; Failure to thrive; Abnormal lung morphology; ; Severe short stature; Prominent forehead; Depressed nasal bridge; Eczema; Asthma; Thyroiditis; Autoimmune thrombocytopenia | Female | Yes | Yes | Proband |
| 245590.1.3 | United Arab Emirates | Severe short stature; Abnormal facial shape; Failure to thrive; Abnormal facial shape; Recurrent skin infections; Eczema; Asthma; Thyroiditis; Gastroesophageal reflux | Female | Yes | Yes | Sister of 245590.1.1 |
| 245590.1.4 | United Arab Emirates | Female | No | Mother of 245590.1.1 | ||
| 245590.1.5 | United Arab Emirates | Male | No | Father of 245590.1.1 |