Global Variome shared LOVD

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

Phenotype #0000311234 Individual ID 00419968 Associated disease IMAGE Phenotype details intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; 11 ribs; clinodactyly; osteopenia; café au lait patches Diagnosis/Initial IMAGe syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite IMAGE1 Age/Examination 39y (39 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 2022-10-27 21:13:16 +02:00 (CEST) Date last edited N/A

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