Global Variome shared LOVD

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Phenotype #0000302900 Individual ID 00410809 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no complications pregnancy; birth 39w; no neonatal complications; no failure to thrive; no truncal overweight; mild intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; buccal hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; no urogenital anomalies; no kidney anomalies; no scoliosis; no pectus deformity; brachymetatarsia; fallen arches; facial features Inheritance Isolated (sporadic) Age/Examination 06y08m (6 years, 8 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 2022-05-30 15:22:01 +02:00 (CEST) Date last edited 2023-05-05 17:01:23 +02:00 (CEST)

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