Phenotype #0000319158

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00428247
Associated disease	DD
Phenotype details	see paper; ..., died 1y9m; global growth delay, persistent vomiting; hyperkalemia, hyponatremia, high level of creatine kinase, adrenal cortical hyperplasia
Diagnosis/Initial	global growth delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	DMD;GKD;AHC
Age/Examination	01y09m (1 year, 9 months)
Age/Diagnosis	00y00m48d
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-25 11:49:26 +01:00 (CET)
Date last edited	N/A

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