Global Variome shared LOVD

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

Phenotype #0000232880 Individual ID 00307056 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details infantile form; delayed motor development; mild intellectual impairment; chronic progression; regression; 7y-no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; visual disturbance; MRI pattern II; lactate increase; severely reduced motor nerve conduction velocity, slightly reduced sensory nerve conduction velocity; abnormal variation in muscle fiber diameter Inheritance Familial, autosomal recessive Age/Examination 1y (1 year) Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-07-28 19:38:55 +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.