Phenotype #0000078562

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00100353
Associated disease	PHN
Phenotype details	see paper; ..., failure to thrive, lactic acidemia, early-onset pulmonary arterial hypertension, isolated complex IV deficiency
Diagnosis/Initial	hypertension
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MC4DN20
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	early-onset pulmonary arterial hypertension
Protein	-
Owner name	Fabian Baertling
Database submission license	No license selected
Created by	Fabian Baertling
Date created	2017-02-14 15:56:22 +01:00 (CET)
Date last edited	2021-07-23 10:49:27 +02:00 (CEST)

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