Global Variome shared LOVD

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

Phenotype #0000322401 Individual ID 00431832 Associated disease MRD47 Diagnosis/Initial - Diagnosis/Definite - Phenotype details Intellectual disability, Dry skin, Obesity, Epileptic spasm, Visual impairment, Delayed speech and language development, Hypoplasia of the corpus callosum Inheritance Unknown Age/Examination 11y (11 years) 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 2023-02-16 15:57:29 +01:00 (CET) Date last edited 2023-02-17 16:28:26 +01:00 (CET)

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