Phenotype #0000059092

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079372
Associated disease	SEDCJD
Phenotype details	at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-08-10 13:46:10 +02:00 (CEST)
Date last edited	N/A

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