Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000304877 Individual ID 00412891 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details Intellectual disability; no epilepsy; unspecified behavioral problems; MRI brain normal; normal sleep; flushed cheeks/ears, high arched palate; bicuspid aortic valve;weight 60kg, height 149cm Inheritance Isolated (sporadic) Age/Examination 26y (26 years) 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 2022-07-06 11:59:56 +02:00 (CEST) Date last edited N/A

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