Phenotype #0000358756

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00473961
Associated disease	leukodystrophy
Diagnosis/Initial	leukodystrophy
Diagnosis/Definite	-
Phenotype details	Psychomotor regression & retardation since the age of 10-month; Hypotonia; No speech; No standing; No dysmorphic features; Mild strabismus; Small head size; Brain MRI suggestive of parenchymal volume loss, neurodegenerative disorder and leukodystrophy.
Inheritance	Unknown
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

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