Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.1511G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.3.1 | Kuwait | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | Yes | Yes | Family with at least 2 affected siblings |