Global Variome shared LOVD

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

Phenotype #0000337182 Individual ID 00447993 Associated disease KLEFS Intellectual_dis yes Diagnosis/Initial - Phenotype details Neurodevelopmental delay, Premature birth, Pulmonic stenosis, Hypomimic face, Delayed speech and language development, Motor delay, Hypotonia, EEG abnormality Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-02-08 11:12:18 +01:00 (CET) Date last edited 2024-02-08 19:24:47 +01:00 (CET)

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