Global Variome shared LOVD

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

Phenotype #0000346484 Individual ID 00458035 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MMDS9B Phenotype details see paper; ..., hearing impairment; optic atrophy; developmental regression, spasticity, ataxia; MRI brain cerebral atrophy, cerebellar atrophy, bilateral optic atrophy; no infection related deterioration Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-25 22:17:59 +01:00 (CET) Date last edited N/A

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