Phenotype #0000170784

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00225678
Associated disease	?
Diagnosis/Initial	neurogenetic disorder
Diagnosis/Definite	-
Phenotype details	see paper; …, microcephaly, speech delay, spasticity; brain MRI: hypomyelination, hypoplastic corpus callosum, and brain atrophy.
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	2019-02-22 18:37:24 +01:00 (CET)
Date last edited	N/A

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