Phenotype #0000232877

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307053
Associated disease	NDD
Diagnosis/Initial	neurodegeneration
Diagnosis/Definite	-
Phenotype details	infantile form; delayed motor development; severe intellectual impairment; chronic progression; regression; no acute respiratory failure; microcephaly (SD−4.6); seizures; spastic paraplegia (tetraparesis); no visual disturbance; normal nerve conduction
Inheritance	Familial, autosomal recessive
Age/Examination	6m
Age/Diagnosis	-
Age/Onset	34y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-28 19:38:55 +02:00 (CEST)
Date last edited	N/A

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