Global Variome shared LOVD

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

Phenotype #0000324892 Individual ID 00434642 Associated disease MRT37 Phenotype details Microcephaly, Inappropriate laughter, Cerebellar hypoplasia, Myoclonus, Absent speech, Limb ataxia, Short stature, Neurodevelopmental delay,Serrated incisors Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 06y (6 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 2023-04-04 16:32:50 +02:00 (CEST) Date last edited 2023-04-06 13:57:49 +02:00 (CEST)

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