Global Variome shared LOVD

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

Phenotype #0000242110 Individual ID 00320066 Associated disease LIS Diagnosis/Initial - Diagnosis/Definite - Phenotype details (+) Abnormal nervous system morphology,(+) Abnormal myelination,(+) Abnormal CNS myelination,(+) Leukodystrophy,(+) Abnormal involuntary eye movements,(+) Nystagmus,(+) Spasticity,(+) Abnormality of movement,(+) Hypogonadism,(+) Male hypogonadism,(+) CNS hypomyelination,(+) Peripheral hypomyelination,(+) Hypoplasia of the corpus callosum Inheritance Unknown Age/Examination 02y (2 years) Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2020-11-20 10:08:32 +01:00 (CET) Date last edited N/A

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