Phenotype #0000351256

Individual ID 00318157
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial spondyloepimetaphyseal dysplasia
Age/Examination -
Diagnosis/Definite EDSSPD2
Age/Onset -
Phenotype/Onset -
Phenotype details spondyloepimetaphyseal dysplasia, rhizomelia, multiple joint dislocations of the elbows and knees, profound joint hyperlaxity, bilateral TEV, severe progressive kyphoscolio- sis, relative macrocephaly, short stature, global develop- mental delay, dysmorphism (blue sclera, downstlanting palpebral fissures, depressed nasal bridge and upturned nares), MVP, middle ear effusion and asthma GERD
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 19:56:50 +02:00 (CEST)
Date last edited N/A

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