Global Variome shared LOVD

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Phenotype #0000210153 Individual ID 00275532 Associated disease HPA Diagnosis/Initial hyperphenylalaninemia Diagnosis/Definite HPANBH4 Phenotype details hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties; no autistic features 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 2020-01-06 19:22:48 +01:00 (CET) Date last edited N/A

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