Global Variome shared LOVD

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

Phenotype #0000350535 Individual ID 00464536 Associated disease MPPH1 Phenotype details Intellectual disability, Macrocephaly, Seizure, Neurodevelopmental delay Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 17y (17 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 2025-03-25 13:52:24 +01:00 (CET) Date last edited 2025-03-25 16:04:45 +01:00 (CET)

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