Global Variome shared LOVD

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

Phenotype #0000340329 Individual ID 00451668 Associated disease MRD57 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Neurodevelopmental delay, Hypotonia, Microcephaly, Gait disturbance, Joint hypermobility, Constipation, Hyperactivity, Tip-toe gait Inheritance Unknown Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-06-26 10:46:09 +02:00 (CEST) Date last edited 2024-06-27 12:25:37 +02:00 (CEST)

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