Phenotype #0000232723

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306895
Associated disease	CAAHD
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., 4y-deceased
Diagnosis/Initial	congenital arthrogryposis with anterior horn cell disease
Age/Examination	04y (4 years)
Diagnosis/Definite	CAAHD
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-21 22:09:12 +02:00 (CEST)
Date last edited	N/A

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