Phenotype #0000228775

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301674
Associated disease	EDS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	EDS
Age/Examination	3y6m (3 years, 6 months)
Diagnosis/Definite	EDSSPD1
Age/Onset	-
Phenotype/Onset	-
Phenotype details	see paper; ..., short stature, joint hypermobility, radioulnar synostosis, hypermetropia, severe osteopenia
Hearing/Loss	-
Protein	-
CK-level	-
EMG	-
Muscle/Biopsy	-
Age/Diagnosis	-
Owner name	Johan den Dunnen
Database submission 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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