Global Variome shared LOVD

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Phenotype #0000355409 Individual ID 00470260 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., birth; at term, weight 2.65 kg (<−1SD), length 50 cm (normal); muscular hypotonia (childhood); weight 17.0 kg (<−2SD) , height 119.8 cm (<−3SD) , OFC 48.2 cm (<−2SD); developmental delay, intellectual disability (IQ71), movement delay, memory deficient, unable to jump with both feet; 19m-walk; 12m-first words; no behavioral anomalies; MRI brain normal; recurrent infections; strabismus; normal hearing; no urogenital anomalies; hypodontia, abnormal morphology of incisor, carious teeth; long eyelashes, unique eyebrows pattern, deep set eyes, upslanting palpebral fissures, strabismus, depressed nasal bridge, thin lips, flat malar bone, micrognathia; 12 rib pairs; 2y bone age delay Inheritance Isolated (sporadic) Age/Examination 8y7m (8 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-29 17:09:21 +01:00 (CET) Date last edited N/A

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