Phenotype #0000351259

Individual ID 00318161
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial spondyloepimetaphyseal dysplasia
Age/Examination -
Diagnosis/Definite EDSSPD2
Age/Onset -
Phenotype/Onset -
Phenotype details joint laxity, multiple joint dislocations, distal arthrogryposis, arachnodactyly, AS, dysmorphic features (broad promi- nent forehead, arched eyebrows, long eyelashes, deep-set eyes, mildly depressed nasal bridge with upturned nostrils, smooth lips, low-set ears and a short neck with a low hairline)
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 2025-06-05 20:00:58 +02:00 (CEST)
Date last edited N/A

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