Global Variome shared LOVD

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Phenotype #0000302897 Individual ID 00410806 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no complications pregnancy; no neonatal complications; failure to thrive; no truncal overweight; severe intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; seizures; MRI brain normal; no hearing loss; vision problems; cardiac anomalies; urogenital/kidney anomalies; no scoliosis; no pectus deformity; asymmetric chest; facial features Inheritance Isolated (sporadic) Age/Examination 23y09m (23 years, 9 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 16:45:45 +02:00 (CEST)

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