Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000282.4:c.2158_2159insT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606054.6.1 | United Arab Emirates | Progressive encephalopathy; Feeding difficulties; Lethargy; Respiratory failure; Generalized hypotonia; Neonatal sepsis; Metabolic acidosis; Hyperammonemia; Elevated circulating creatinine concentration; Leukopenia; Lymphopenia; Neutropenia; Propionic acidemia; Hypotension; Hyponatremia; Hypokalemia; Hypocalcemia; Hypophosphatemia; Hypomagnesemia; Hyperammonemia; Hypertension; Patent ductus arteriosus; Seizure cluster; Edema; Pancytopenia; Abnormality of coagulation; Tachycardia; Congestive heart failure; Hyperthyroidism; Short stature; Decreased head circumference; Neonatal onset | Female | No | Yes | Proband. She has a healthy sibling |
| 606054.6.2 | United Arab Emirates | Male | Father of the proband |