Phenotype #0000350086

Individual ID 00462608
Associated disease ?
Diagnosis/Initial global developmental delay, growth failure, dysmorphic facial features
Diagnosis/Definite DMD;OCNDS
Phenotype details see paper; ..., 3y-global developmental delay, postnatal growth failure, feeding difficulties, self‐injurious behaviors, recurrent infections; birth weight 3.6kg (55th), height 52.1cm (79th), OFC 34.9cm (32th); 18m-progressive growth failure (height 72.6cm (2.6th), weight 8.7kg (0.2th), OFC 46cm (8.3th), global developmental delay, mild bilateral conductive hearing loss due to recurrent otitis media, hypertelorism, epicanthal folds, flat nasal bridge, mild cupid's bow lip, mild generalized hypotonia
Inheritance Di-genic
Age/Examination 03y06m (3 years, 6 months)
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 2025-02-14 12:01:15 +01:00 (CET)
Date last edited N/A

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