Global Variome shared LOVD

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Phenotype #0000228738 Individual ID 00301638 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Larsen of Reunion Island syndrome Age/Examination 22y (22 years) Diagnosis/Definite EDSSPD1 Age/Onset - Phenotype/Onset - Phenotype details birth length 42 cm, adult height 130 cm, BMI 32.5; facial dysmorphism; cutaneous hyperextensibility; learning difficulties; no glaucoma; no pectus carinatum; no bifid thumbs; no cleft palate; no scoliosis/no kyphosis; joint dislocations elbows, left shoulder; no brachy mesophalangy fingers II–III–IV; no phalangeal dislocation; no Swedish key; no 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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