Global Variome shared LOVD

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

Phenotype #0000317327 Individual ID 00426177 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details IUGR, recurrent pneumonia (lipoid), ventilator-dependent, inguinal hernia, thin corpus callosum and mild to moderate brain atrophy Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-11-28 11:02:11 +01:00 (CET) Date last edited N/A

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