Phenotype #0000230649

Individual ID	00303586
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	LS
Phenotype details	nonsyndromic intellectual disability, developmental delay, extrapyramidal signs, regression in walking, dystonia, muscle wasting, rigidity, brisk reflexes, mild nystagmus; MRI brain high signal white matter and basal ganglia (caudate and lentiform nuclei) at T2; fundus: NAD; normal metabolic screening and acylcarnitine profile
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	2020-06-16 19:53:17 +02:00 (CEST)
Date last edited	2020-06-16 19:59:15 +02:00 (CEST)

Global Variome shared LOVD