208230.G.1.1

Country

Syria

HPO Terms

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
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003880.3:c.589G>C2NA

Remarks

3 siblings from 'Family 1' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
208230.G.1.2SyriaWaddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Short stature; Genu varum; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; OsteoarthritisFemaleYesYes2 siblings from 'Family 4' in the publication
208230.G.1.3SyriaWaddling 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; MyopiaFemaleYesYes2 siblings from 'Family 5' in the publication
208230.G.1.4SyriaWaddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; Osteoarthritis; KyphoscoliosisFemaleYesYes4 siblings from 'Family 6' in the publication
208230.G.1.5SyriaWaddling gait; Abnormality of joint mobility; Arthralgia; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; OsteoarthritisMaleYesYes3 patients from 'Family 7' in the publication
208230.G.1.6SyriaWaddling gait; Joint swelling; Abnormality of joint mobility; Arthralgia; Generalized amyotrophy; Short stature; Abnormal vertebral morphology; Flared metaphysis; Flattened epiphysis; OsteoarthritisUnknownYesYes2 siblings from 'Family 9' in the publication
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