Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.496C>G | 1 | |||
| NM_000520.5:c.498delC | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.11 | Syria | Global developmental delay; Cherry red spot of the macula; Paralysis | ||||
| 272800.12 | Syria | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.13 | Syria | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.14 | Syria | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
| 272800.15 | Syria | Global developmental delay; Paralysis; Cherry red spot of the macula | Unknown | No | Compound heterozygous | |
| 272800.20 | Syria | Global Developmental delay; Failure to thrive; Seizure; Dystonia; Ataxia; Nystagmus | Female | Yes | Yes | Affected cousin |