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 InternationalCreative Commons License
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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