Phenotype #0000232856

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307030
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	HPDL deficiency disorder
Phenotype details	Low weight， EMG abnormality，DD/ID， Hypertonia， Spasm， Encephalopathy， Increased serum lactate， Abnormal MRI
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y01m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Wenjuan Qiu
Database submission license
Created by	Wenjuan Qiu
Date created	2020-07-28 10:25:27 +02:00 (CEST)
Date last edited	2020-07-29 09:10:45 +02:00 (CEST)

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