Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000294763 Individual ID 00402000 Associated disease HPA Diagnosis/Initial hyperphenylalaninemia Diagnosis/Definite HPABH4A Phenotype details yperphenylalaninaemia, monoamine neurotransmitter deficiency Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-03 17:59:38 +01:00 (CET) Date last edited N/A

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