Global Variome shared LOVD

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Phenotype #0000356081 Individual ID 00471245 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD75 Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth-36w, weight 1600g (-2.7SD), length 41cm (-2.8SD), OFC 28cm (-2.8SD), feeding difficulty, apnea episodes, bradycardia; gastroesophageal reflux, failure to thrive; severe developmental delay, hypotonia; short stature; intellectual disability; ECG ventricular non-compaction cardiomyopathy; facial dysmorphism, low-set ears, hypertelorism, epicanthic folds, slant-up and narrowing palpebral fissures, broad nasal bridge, small nares, broad alae nasi, smooth philtrum, thin upper lip, micro-retrognathia Age/Examination 08y (8 years) 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 2025-12-18 16:27:36 +01:00 (CET) Date last edited N/A

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