Phenotype #0000337420

Individual ID 00448210
Associated disease ?
Diagnosis/Initial rare disorder
Diagnosis/Definite -
Phenotype details developmental delay; retinitis pigmentosa; hypotonia; hypoplasia of the corpus callosum; short stature; immune system dysfunction (sepsis)
Inheritance Familial, X-linked dominant
Age/Examination 1y (1 year)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-02-22 17:47:06 +01:00 (CET)
Date last edited N/A

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