Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001848.3:c.329G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 254090.2 | Saudi Arabia | Motor delay; Delayed speech and language development; Severe muscular hypotonia | Male | No | ||
| 254090.4 | Saudi Arabia | Failure to thrive; Macrocephaly; Hydrocephalus; Hypotonia; Rocker bottom foot | Female | Yes | Yes | 2 siblings died of hypotonia |