Phenotype #0000228752

Individual ID 00301652
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Larsen of Reunion Island syndrome
Age/Examination 34y (34 years)
Diagnosis/Definite EDSSPD1
Age/Onset -
Phenotype/Onset -
Phenotype details birth length 38.5 cm, adult height 120 cm; facial dysmorphism; cutaneous hyperextensibility; no learning difficulties; no glaucoma; no pectus carinatum; bifid thumb; no cleft palate; scoliosis/kyphosis; joint dislocations knees, hips; no Swedish key; no radioulnar synostosis; bilateral 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 InternationalCreative Commons License
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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