Phenotype #0000278909

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00309646
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	developmental delay; intellectual disability; hearing loss; regression; seizures; no ataxia; no hypotonia; spasticity; no visual impairment; no speech; mortality; dysmorphic facial features; no behavioral abnormalities; leukodystrophy; microcephaly
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	2021-10-08 11:03:02 +02:00 (CEST)
Date last edited	N/A

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