Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001374828.1:c.4058+1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 135900.1 | United Arab Emirates | Mucopolysacchariduria; Intellectual disability; Global developmental delay; Attention deficit hyperactivity disorder; Macrocephaly; Partial agenesis of the corpus callosum | Female | No | No | de novo mutation |