Global Variome shared LOVD

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Phenotype #0000228739 Individual ID 00301639 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Larsen of Reunion Island syndrome Age/Examination 15y (15 years) Diagnosis/Definite EDSSPD1 Age/Onset - Phenotype/Onset - Phenotype details birth length 46 cm, 14y-height 132 cm, BMI 25.2; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, right wrist, shoulders; advanced bone age; brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; no radioulnar synostosis; right Genu recurvatum Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Francois Cartault Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-20 08:16:52 +02:00 (CEST) Date last edited N/A

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