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 InternationalCreative Commons License
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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