Global Variome shared LOVD

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

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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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)

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