Unknown
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000520.5:c.78G>A | 1 | |||
NM_000520.5:c.533G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
272800.11 | Palestine | Global developmental delay; Cherry red spot of the macula; Paralysis | ||||
272800.12 | Palestine | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
272800.13 | Palestine | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
272800.14 | Palestine | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | |||
272800.16 | Palestine | Global developmental delay; Cherry red spot of the macula; Paralysis | Unknown | Yes | Compound heterozygous | |
272800.20 | Palestine | Global Developmental delay; Failure to thrive; Seizure; Dystonia; Ataxia; Nystagmus | Female | Yes | Yes | Affected cousin |