Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003880.3:c.156C>A | 2 | NA | ||
| NM_003880.3:c.248G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 208230.G.1.1 | Palestine | Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Short stature; Abnormal thorax morphology; Genu varum; Genu valgum; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis; Metaphyseal dysplasia | Male | Yes | Yes | 3 siblings from 'Family 1' in the publication |
| 208230.G.1.2 | Palestine | Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Short stature; Genu varum; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis | Female | Yes | Yes | 2 siblings from 'Family 4' in the publication |
| 208230.G.1.3 | Palestine | Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis; Abnormal hip joint morphology; Scoliosis; Myopia | Female | Yes | Yes | 2 siblings from 'Family 5' in the publication |
| 208230.G.1.4 | Palestine | Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis; Kyphoscoliosis | Female | Yes | Yes | 4 siblings from 'Family 6' in the publication |
| 208230.G.1.6 | Palestine | Waddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis | Unknown | Yes | Yes | 2 siblings from 'Family 9' in the publication |