Global Variome shared LOVD

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Phenotype #0000350416 Individual ID 00464393 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 10m-rol, 12m-site, 17m-walk; intellectual disability (HP:0001249), 8y3m-able to read, knows some sight words, writes name; normal behaviour; delayed speech (HP:0000750), 2.5y-first word, 4y-sentences; 13m-seizures (HP:0001250) possibly related to medications receiving; MRI brain normal; hypotonia (HP:0001290); esotropia (HP:0000565), wear glasses; esay bruising (HP:0000978); prematurity (birth 34w with twin sister), eye anomalies, atypical migranes, mild hypoglacemia, constipation, emesis, abdominal distention, intestinal dysmotility Age/Examination 8.25y 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 2025-03-08 17:44:25 +01:00 (CET) Date last edited N/A

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