Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014780.5:c.2988G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 273750.5.1 | Saudi Arabia | Severe short stature; Feeding difficulties; Intrauterine growth retardation; Neonatal respiratory distress; Relative macrocephaly; Abnormal facial shape; Spina bifida occulta | Male | Yes | Yes |