Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.910_912delTTC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.6.1 | Morocco | Global developmental delay; Cherry red spot of the macula; Paralysis | Female | No | Yes | Moroccan Jew; Compound heterozygous |
| 272800.6.2 | Morocco | Male | Yes | Father of 272800.6.1 | ||
| 272800.6.3 | Morocco | Female | Yes | Mother of 272800.6.1 |