No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002225.5:c.1175G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 243500.5.1 | United Arab Emirates | Metabolic acidosis; Feeding difficulties in infancy; Lethargy; Thrombocytopenia; Cerebral hemorrhage; Enlarged cisterna magna; Intellectual disability; Behavioral abnormality; Tremor | Male | No | Yes | Index patient |
| 243500.5.2 | United Arab Emirates | Metabolic acidosis; Vomiting | Female | No | Yes | Sister of 243500.5.1 |
| 243500.5.3 | United Arab Emirates | Asymptomatic | Female | No | Yes | Sister of 243500.5.1 |