Phenotype #0000210934

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00276347
Associated disease	ODCD
Diagnosis/Initial	osteochondrodysplasia
Diagnosis/Definite	STLS
Phenotype details	see paper; ..., short stature, massive malalignment large joints, kyphoscoliosis, hearing loss, typical facial dysmorphism, bilateral colobomata irides, choroido‐retinae with unilateral affection macula
Inheritance	Familial, autosomal recessive
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-31 11:37:10 +01:00 (CET)
Date last edited	2020-01-31 11:37:55 +01:00 (CET)

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