Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032193.4:c.172G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610329.2.1 | United Arab Emirates | Fetal pericardial effusion; Neonatal respiratory distress; Microcephaly; Ventriculomegaly; Pancytopenia; Elevated hepatic transaminase; Left ventricular hypertrophy; Global developmental delay; Seizure; Cerebral atrophy | Male | Yes | Yes | Older sibling with global developmental delay died in childhood of hypertrophic cardiomyopathy |
| 610329.2.3 | United Arab Emirates | Female | Yes | Mother of 610329.2.1 |