Phenotype #0000078455

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00095882
Associated disease	-
Phenotype details	carnitine palmitoyl transferase II deficiency myopathic form (CPT2, adult-onset form); rhabdomyolysis (HP:0003201)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Daniela Avila-Smirnow
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2017-02-05 10:44:08 +01:00 (CET)
Date last edited	N/A

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