Global Variome shared LOVD

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

Phenotype #0000350436 Individual ID 00464416 Associated disease PMD;HLD1 Phenotype details Neurodevelopmental delay, Delayed gross motor development, Expressive language delay, Intention tremor, Hyperreflexia, Babinski sign, Brachycephaly, Plagiocephaly Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 02y (2 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 2025-03-11 17:18:17 +01:00 (CET) Date last edited 2025-03-12 11:33:24 +01:00 (CET)

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