Global Variome shared LOVD

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Phenotype #0000355451 Individual ID 00470302 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 39w4d; normal birth weight; 12m-sit; 18m-walk; 18m-first word; 36m-first sentence; motor delay; speech delay; anxiety, does not respond well to change; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; cataracts, glaucoma; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; not have the correct amount of adult teeth. Several of the adult teeth that have grown in are very crooked and turned.; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset 9m 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 2025-11-30 10:24:36 +01:00 (CET) Date last edited N/A

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