Phenotype #0000328766

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438868
Associated disease	HLD
Diagnosis/Initial	hypomyelinating leukodystrophy
Diagnosis/Definite	HLD7
Phenotype details	see paper; ..., ataxia or other cerebellar signs, hypodontia or dental anomalies; MRI brain abnormal signal posterior limb internal capsule
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-25 10:31:41 +02:00 (CEST)
Date last edited	N/A

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