Phenotype #0000295655

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00402904
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	no perinatal findings; intellectual disability, motor delay; spastic-dystonic paraplegic cerebral palsy, 5y-epilepsy; MRI brain mild ventriculomegaly; scoliosis
Inheritance	Familial, autosomal recessive
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-14 10:40:27 +01:00 (CET)
Date last edited	N/A

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