Global Variome shared LOVD

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

Phenotype #0000319186 Individual ID 00428281 Associated disease MRD29 Phenotype details Macrocephaly, Mild global developmental delay, Infantile axial hypotonia, Motor delay, High palate; mother reported to have macrocephaly as well Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein 01164 Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2022-12-29 14:24:36 +01:00 (CET) Date last edited 2022-12-30 12:41:16 +01:00 (CET)

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