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 |
---|---|---|---|---|---|---|
608840.1.2 | Lebanon | Intellectual disability, mild; Cerebellar malformation; Reduced muscle fiber alpha dystroglycan | Female | Yes | Yes | Sibling of 608840.1.1 |
608840.1.3 | Lebanon | Female | Mother of 608840.1.1 | |||
608840.1.4 | Lebanon | Male | Father of 608840.1.1 |