Global Variome shared LOVD

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Phenotype #0000186754 Individual ID 00247516 Associated disease SCT Phenotype details This patient shows some clinical presentation and radiological features of SCT, including multiple synostosis of cervical, thoracic, and lumbar vertebral bodies, carpal fusion, scoliosis, clinodactyly of the fifth fingers, and flat foot. Rib anomalies including rib crowding, malalignment, and uneven size and shape are rarely reported in SCT cases and are noted in this patient. Hearing loss and muscle weakness are present in this patient. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Chi-Fan Yang Database submission license No license selected Created by Chi-Fan Yang Date created 2016-12-22 07:59:48 +01:00 (CET) Date last edited N/A

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