Phenotype #0000068568

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00089181
Associated disease	ILLD
Phenotype details	failure to thrive 22/29; respiratory insufficiency 14/29; dyspnea 28/29; cough 7/29; interstitial lung disease; lung fibrosis 12/18; hepatomegaly 25/28; liver dysfunction 24/28; steatosis 5/28; fibrosis 1/28; cirrhosis 8/28; digital clubbing 8/29
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Guorui Hu
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-02 10:58:08 +01:00 (CET)
Date last edited	N/A

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