Phenotype #0000232855

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Zeynep Tümer

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
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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