Global Variome shared LOVD

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Phenotype #0000228746 Individual ID 00301646 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Larsen of Reunion Island syndrome Age/Examination 21y (21 years) Diagnosis/Definite EDSSPD1 Age/Onset - Phenotype/Onset - Phenotype details birth length 38 cm, adult height 121 cm, BMI 17; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, patella, bilateral wrist, right shoulder; advanced bone age; no brachy mesophalangy fingers II–III–IV; phalangeal dislocation; Swedish key; radioulnar synostosis; no 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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