Global Variome shared LOVD

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Phenotype #0000232810 Individual ID 00306992 Associated disease ? Diagnosis/Initial - Diagnosis/Definite HPDL deficiency disorder Phenotype details Feeding difficulty, Low weight, Strabismus, DD/ID, Hypertonia, Spasm, Encephalopathy, EEG abnormality, Increased urine alpha- ketoglutaric acid, Abnormal MRI Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 00y00m02d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Wenjuan Qiu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Wenjuan Qiu Date created 2020-07-27 08:46:24 +02:00 (CEST) Date last edited 2020-07-29 09:16:29 +02:00 (CEST)

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