Global Variome shared LOVD

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

Phenotype #0000333069 Individual ID 00443794 Associated disease - Phenotype details psychomotor retardation cognitive impairment cerebral and cerebellar atrophy bulbar signs ophthalmoparesis nystagmus sensorineural hearing impairment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Ece Sonmezler Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Ece Sonmezler Date created 2023-12-02 17:29:37 +01:00 (CET) Date last edited 2023-12-04 08:56:51 +01:00 (CET)

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