Phenotype #0000337691

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448514
Associated disease	EPM3;CLN14
Phenotype details	Global developmental delay, Intellectual disability, Cerebral palsy, Seizure, Myoclonic seizures, Delayed speech and language development
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2024-03-19 13:52:45 +01:00 (CET)
Date last edited	2024-03-19 23:00:26 +01:00 (CET)

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