Phenotype #0000278928

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00385132
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	developmental delay; intellectual disability; hearing loss; no regression; no seizures; no ataxia; no hypotonia; spasticity; no visual impairment; speech; no mortality; dysmorphic facial features; no behavioral abnormalities; no leukodystrophy
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 11:27:51 +02:00 (CEST)
Date last edited	N/A

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