Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International Created by Johan den Dunnen Date created 2020-05-20 08:16:52 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.