143095.3.11

Country

Lebanon

HPO Terms

Knee dislocation ; Coronal cleft vertebrae ; Vertebral wedging; Spondyloepiphyseal dysplasia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004273.5:c.661C>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
143095.3.01LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.02LebanonLimitation of joint mobility ; Kyphoscoliosis ; Coronal cleft vertebrae ; Spondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.03LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.04LebanonGenu recurvatum ; Talipes equinovarus ; Spondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.05LebanonGenu valgum ; Lumbar hyperlordosis ; Spondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.06LebanonAbnormal femoral neck/head morphology ; Abnormal femoral neck/head morphology ; Hip dislocation ; Spondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.07LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.08LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.09LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.10LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.12LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.13LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.14LebanonWidened interpedicular distance ; Platyspondyly ; Spondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.15LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.16LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.17LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.18LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.19LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.20LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocation; KyphoscoliosisUnknown
143095.3.21LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.22LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.23LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
143095.3.24LebanonSpondyloepiphyseal dysplasia ; Joint dislocation ; Knee dislocationUnknown
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