Phenotype #0000105575

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132791
Associated disease	arthrogryposis
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	distal arthrogryposis
Age/Examination	-
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs
Protein	-
Owner name	Mark Davis
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2017-11-10 13:31:35 +01:00 (CET)
Date last edited	2020-10-27 16:15:16 +01:00 (CET)

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