Phenotype #0000269010

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00373800
Associated disease	NEDSWMA;CPSQ1
Diagnosis/Initial	-
Diagnosis/Definite	Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (OMIM 618994)
Phenotype details	HP:0002353; HP:0002539; HP:0002079; HP:0003155; HP:0012704; HP:0001263; HP:0001250; HP:0001276
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Wenjuan Qiu
Database submission license
Created by	Wenjuan Qiu
Date created	2021-05-21 08:33:01 +02:00 (CEST)
Date last edited	2021-05-21 19:25:00 +02:00 (CEST)

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