Phenotype #0000158607

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00210012
Associated disease	DBQD
Diagnosis/Initial	-
Diagnosis/Definite	DBQD-2
Phenotype details	see paper; severe short stature of prenatal onset, joint laxity, psychomotor retardation, multiple radiological abnormalities including short metacarpals, advanced bone age, exaggerated trochanters, ...
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-12-25 13:38:30 +01:00 (CET)
Date last edited	N/A

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