Global Variome shared LOVD

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Phenotype #0000350403 Individual ID 00464380 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Familial, autosomal dominant Phenotype details see paper; ..., (growth parameters); initial feeding difficulties; motor delay (HP:0001270),9m- rolled, 1y-sit, 1y-crawl, 2y-walk; mild intellectual disability (HP:0001256); autism spectrum disorders (HP:0000729), ADHD, depression, anxiety; delayed speech (HP:0000750), able to speak in sentences; childhood onset 'atypical absence' seizures, now weaned off medication and seizure-free; infantile period low mucle tone, ormal tone in adolescence; mild: long narrow head, mild retrognathia, malar hypoplasia, high narrow palate, broad single uvula; no cardiavacular anomalies; flexible joints but not clinically hypermobile (Beighton score 2/9). Increased carrying angle elbow; pes planus with hindfoot deformity; Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 2y 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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