Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.6:c.2T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.11 | United Arab Emirates | Global developmental delay; Cherry red spot of the macula; Paralysis | ||||
| 272800.12 | United Arab Emirates | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.13 | United Arab Emirates | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.14 | United Arab Emirates | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.15 | United Arab Emirates | Global developmental delay; Paralysis; Cherry red spot of the macula | Unknown | No | Compound heterozygous | |
| 272800.16 | United Arab Emirates | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | Yes | Compound heterozygous |