Phenotype #0000305409

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413435
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDMISB
Phenotype details	see paper; ..., neurodevelopmental disorder, microcephaly, mandibular hypoplasia, weakness of muscles, malocclusion of teeth, drooling of saliva, urinary incontinence
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	2022-07-18 13:44:36 +02:00 (CEST)
Date last edited	N/A

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