Phenotype #0000129783

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00164765
Associated disease	?
Diagnosis/Initial	Leigh syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., PatS2a Leigh syndrome, non-verbal, microcephaly, horseshoe kidney, mild coarsening facial features; PatS2b Leigh-like syndrome, abnormal MRI, non-verbal, microcephaly, mild coarsening of facial features
Inheritance	Familial, autosomal recessive
Age/Examination	-
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	2018-06-08 11:43:01 +02:00 (CEST)
Date last edited	N/A

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