Phenotype #0000352958

Individual ID 00467805
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite DMD;FESD
Phenotype details see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents
Inheritance Complex
Age/Examination 03y (3 years)
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 2025-10-30 13:33:36 +01:00 (CET)
Date last edited N/A

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