Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_012160.4:c.1067del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615471.4 | United Arab Emirates | Metabolic acidosis; Failure to thrive; Global developmental delay; Almond-shaped palpebral fissure; High palate; Small forehead; Synophrys; Infra-orbital crease; Wide nasal bridge; Anteverted nares; Micrognathia; Cardiomyopathy; Hypotonia; Delayed speech and language development; Inability to walk | Female | |||
| 615471.5 | United Arab Emirates | Global developmental delay; Delayed speech and language development; Abnormal facial shape; Plagiocephaly; Lactic acidosis; Cerebral atrophy; Leukodystrophy; Abnormal basal ganglia morphology; Thin corpus callosum; Dystonia; Failure to thrive | Male | Yes |