Phenotype #0000325670

Individual ID 00435483
Associated disease -
Phenotype details see paper; ..., microcephaly; growth retardation; birdlike face; infections bacterial and opportunistic; no autoimmunity
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 3y (3 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 2023-08-03 09:31:25 +02:00 (CEST)
Date last edited N/A

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