Phenotype #0000341671

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00453026
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	MPS3B
Phenotype details	severe phenotype, progressive neurological deterioration, developmental delays (speech delay > motor delay), mild hearing loss, severe intellectual disability, coarse facial features
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Muhammad Umair
Database submission license
Created by	Johan den Dunnen
Date created	2024-08-15 18:41:07 +02:00 (CEST)
Date last edited	N/A

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