Global Variome shared LOVD

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

Phenotype #0000325349 Individual ID 00435117 Associated disease MAE Phenotype details (+) Pectus excavatum,(+) Seizure,(+) Absent speech,(+) Scoliosis,(+) Neurodevelopmental delay Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-05-15 12:35:12 +02:00 (CEST) Date last edited 2023-05-16 08:15:39 +02:00 (CEST)

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