Phenotype #0000310249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00418962
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., motor delay; developmental delay; borderline intellectual disability; seizures; ataxia; no hypotonia; no spasticity; opsoclonus; MRI brain normal; myoclonus and dystonia; difficulty with fine motor skills; dyslexia; migraines
Inheritance	Isolated (sporadic)
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	<0d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-13 21:36:14 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.