Global Variome shared LOVD

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Phenotype #0000331482 Individual ID 00442122 Associated disease MLC Phenotype details see paper; ..., 32y-OFC 63 cm (+5.5SD), normal initial mental development, normal initial motor development; spasticity; ataxia; seizures; deterioration intellectual function Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite MLC1 Age/Examination 32y (32 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-18 18:38:34 +01:00 (CET) Date last edited N/A

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