Global Variome shared LOVD

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Phenotype #0000351369 Individual ID 00465983 Associated disease ? Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRT71 Phenotype details see paper; ..., developmental delay; normal pregnancy; global developmental delay; speech delay; mild–intellectual disability; seizure; hypotonia; ; weak reflexes; mild hyperactivity; no anxiety; normal sleep; no repetitive tics; no major deficiency in memory/mathematical abilities; dysmorphic features; 14y-height 146cm, weight 47kg, OFC 51,5cm; MRI brain normal; polydactyly; normal hearing; no eye anomalies; ECG normal; no muscular anomalies Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset developmental delay Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Muhammad Umair Database submission license Creative Commons Attribution 4.0 International Created by Muhammad Umair Date created 2025-07-01 08:29:42 +02:00 (CEST) Date last edited 2025-11-11 17:06:57 +01:00 (CET)

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