Global Variome shared LOVD

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Phenotype #0000257612 Individual ID 00362198 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT47 Inheritance Familial, autosomal recessive Phenotype details intellectual disability; OFC 52.4 cm; speech 1-2 words; normal hearing; daily activities dependent (eating, toilet); no dysmorphic face; hypotonia; no microcephaly; seizures (controlled Carbamazepine); ECG normal; no spasticity; no visual abnormalities; mitral valve prolapse; MRI brain normal Age/Examination 16y (16 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 2021-04-16 09:35:35 +02:00 (CEST) Date last edited N/A

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