Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001290787.1:c.1679+7G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615065.1.2 | Morocco | Distal arthrogryposis; Flexion contracture of finger; Limited knee flexion; Abnormality of the tarsal bones; Congenital hip dislocation; Ptosis; Open mouth; Hyperlordosis; Decreased muscle mass | Male | Yes | Yes | Sibling of 615065.1.1 |