Phenotype #0000337607

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448419
Associated disease	?
Diagnosis/Initial	nystagmus
Diagnosis/Definite	LDMLS1
Phenotype details	see paper;. ..., 4m-nystagmus, 6m-status epilepticus, severe bradycardia; global developmental delay, hypotonia, central sleep apnea
Inheritance	Familial, autosomal recessive
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-03-08 18:37:32 +01:00 (CET)
Date last edited	N/A

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