Phenotype #0000351270

Individual ID 00465823
Associated disease ?
Diagnosis/Initial joint laxity
Diagnosis/Definite EDSKSCL2
Phenotype details see paper; ..., Significant skin and joint laxity, excessively redundant umbilical skin, hypotonia, myopathy, global developmental delay, microcephaly, subtle dysmorphic features (sloping forehead, square nasal root, mild hypotelorism and epicanthal folds), patent ductus arteriosus
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2025-06-07 12:17:17 +02:00 (CEST)
Date last edited N/A

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