Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_003906.5:c.2609T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
603294.1.1 | Lebanon | Distal muscle weakness; Foot dorsiflexor weakness; Distal sensory impairment; Arachnoid cyst; Psychosis; Obesity; Type II diabetes mellitus | Female | Yes | No | |
603294.1.2 | Lebanon | Distal muscle weakness; Foot dorsiflexor weakness; Distal sensory impairment; Obesity | Male | Yes | No | Sibling of 603294.1.1 |
603294.1.4 | Lebanon | Female | Mother of 603294.1.1 | |||
603294.1.5 | Lebanon | Male | Father of 603294.1.1 |