Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| LARGE1, 42.9-KB INS/4.1-KB DEL | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608840.1.1 | Lebanon | Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan | Female | Yes | Yes | |
| 608840.1.3 | Lebanon | Female | Mother of 608840.1.1 | |||
| 608840.1.4 | Lebanon | Male | Father of 608840.1.1 |