Global Variome shared LOVD

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Phenotype #0000350413 Individual ID 00464390 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); no feeding difficulties; motor delay (HP:0001270), 9m-crawl, 16m-walk, fine motor difficulties noted; moderate intellectual disability (HP:0002342), WISC-IV, NEPSY-II, Trog-2, VMI, Vineland-II below 2SD; happy personality, social, kind, helpful, but ten-dency to over-positive behaviour, seeks contact with adults, very easy to lead; delayed speech (HP:0000750), 5y-3-4 words in sentences at 5y, 14y-complete sentences; no seizures; mild facial dysmorphism (HP:0001999), resemble facial features NAA10 cases reported by Popp 2015; no cardiavacular anomalies, no heart defect or signs of cardiomyopathy; no skeletal anomalies; normal connective tissue; Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 1m 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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