Phenotype #0000232855

Individual ID 00307029
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite HPDL deficiency disorder
Phenotype details Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased CSF lactate，Increased urine alpha- ketoglutaric acid， Abnormal MRI
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 00y02m
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2020-07-28 10:00:13 +02:00 (CEST)
Date last edited 2020-07-29 09:20:00 +02:00 (CEST)

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