Phenotype #0000228725

Individual ID 00301625
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial musculocontractural EDS
Age/Examination 02y (2 years)
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., facial dysmorphism, frontal bossing, open anterior fontanelle, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high arched palate, tent-shaped lips, dental crowding, brachycephaly, prominent ears; arachnodactyly, adducted thumbs, joint hyperlaxity, inguinal hernia, congenital bilateral talipes equino varus; hypermobility finger, elbow, and knee joints; tendency to atrophic scarring skin
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 2020-05-19 16:21:53 +02:00 (CEST)
Date last edited 2020-05-19 16:26:18 +02:00 (CEST)

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