Global Variome shared LOVD

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Phenotype #0000228731 Individual ID 00301631 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial musculocontractural EDS Age/Examination 48y (48 years) Diagnosis/Definite EDSMC2 Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; small mouth; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; muscular hypotonia; no kyphoscoliosis; tapering fingers / toes; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; fine palmar creases; cardiovascular abnormalities; valvular abnormality Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Sofie Symoens Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-19 18:48:52 +02:00 (CEST) Date last edited N/A

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