Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000520.5:c.540C>G | 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 | ||
272800.6.4 | Morocco | Unknown | Yes | First degree cousin of 272800.6.1 |