Phenotype #0000232833

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307009
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	HPDL deficiency disorder
Phenotype details	Feeding difficulty， Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased urine alpha- ketoglutaric acid， Abnormal MRI
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y00m01d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Wenjuan Qiu
Database submission license
Created by	Wenjuan Qiu
Date created	2020-07-27 11:06:14 +02:00 (CEST)
Date last edited	2020-07-29 09:18:32 +02:00 (CEST)