Phenotype #0000127247

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00154511
Associated disease	DA
Phenotype details	severe camptodactyly, overlapping fingers (abnormal digital flexion creases, adducted thumbs), talipes planovalgus with flexed toes, scoliosis
Diagnosis/Initial	arthrogryposis, distal
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	arthrogryposis, distal, type 2B (DA-2B)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2008-09-28 10:16:16 +02:00 (CEST)
Date last edited	2012-03-18 10:13:45 +01:00 (CET)

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