Global Variome shared LOVD

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Phenotype #0000270789 Individual ID 00375575 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no congenital anomalies; moderate intellectual disability; speech delay; developmental delay; frontal bossing, prominent forehead; severe hypotonia; no epilepsy; no spasticity; aggressive, autism; no eyes anomalies; ear tag right ear; normal bones; no vertebral anomalies; no limb defects, small hands and feet Inheritance Isolated (sporadic) Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-11 18:02:38 +02:00 (CEST) Date last edited N/A

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