Global Variome shared LOVD

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Phenotype #0000228777 Individual ID 00301676 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial EDS Age/Examination 5y (5 years) Diagnosis/Definite EDSSPD1 Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., global developmental delay, pre‐ and post‐natal growth restriction, striking joint laxity with soft skin, scoliosis; triangular face, prominent forehead, proptosis, small nose, small jaw; corneal clouding, colobomas iris and optic nerve, posterior subcapsular cataracts Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-20 09:21:51 +02:00 (CEST) Date last edited N/A

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