Phenotype #0000311230

Individual ID 00419964
Associated disease IMAGE
Phenotype details intrauterine growth restriction; skeletal involvement; adrenal insufficiency; no genitourinary abnormalities; immunodeficiency, either increased susceptibility to infections or documented lymphopenia/hypogammaglobinemia; bilat coxa valga; 11 ribs; 6 lumbar vertebrae; scoliosis; gastrostomy; infant eczema
Diagnosis/Initial IMAGe syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite IMAGE1
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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