Global Variome shared LOVD

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Phenotype #0000229990 Individual ID 00302912 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRX106 Inheritance Familial, X-linked Phenotype details Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Oral motor hypotonia (HP:0030190);Astigmatism (HP:0000483);Nystagmus (HP:0000639);Hypermetropia (HP:0000540) Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein O-GlcNAc transferase (OGT) Owner name Joaquin De La Torre Vela Database submission license No license selected Created by Joaquin De La Torre Vela Date created 2020-06-03 17:55:38 +02:00 (CEST) Date last edited 2020-06-04 13:50:26 +02:00 (CEST)

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