Phenotype #0000351284

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465837
Associated disease	?
Diagnosis/Initial	joint laxity
Diagnosis/Definite	GO
Phenotype details	see paper; ..., Skin and joint laxity, congenital dislocation hip, osteoporosis, thin bones, dysmorphic features (droopy face, maxillary hypoplasia, mandibular prognathism)
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
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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