Global Variome shared LOVD

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Phenotype #0000346482 Individual ID 00458033 Associated disease ? Diagnosis/Initial - Diagnosis/Definite MMDS9B Phenotype details see paper; ..., no hearing impairment; no optic atrophy; microcephaly, movement disorder, ataxia; infection related deterioration Inheritance Familial, autosomal recessive Age/Examination 6y (6 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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