Global Variome shared LOVD

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Phenotype #0000348061 Individual ID 00460329 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT13 Inheritance Familial, autosomal recessive Phenotype details see paper; ..., 3.9y-microcephali, intellectual disability, motor retardation; round face, full cheeks, thin upper lip, ptosis; spasticity left ankle Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Eyyup Uctepe Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-23 12:42:22 +01:00 (CET) Date last edited N/A

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