Global Variome shared LOVD
EGFR (epidermal growth factor receptor)
LOVD v.3.0 Build 30b [
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Curators:
Aude Lamy
and
Etienne Rouleau
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Phenotype #0000350350
Individual ID
00464287
Associated disease
?
Diagnosis/Initial
facial dysmorphisms
Diagnosis/Definite
-
Phenotype details
see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; no congenital heart disease; cryptorchidism; short stature; no rhizomelic shortening; joint laxity; developmental delay; autism; seizure; no microcephaly
Inheritance
Isolated (sporadic)
Age/Examination
-
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 International
Created by
Johan den Dunnen
Date created
2025-02-28 13:47:37 +01:00 (CET)
Date last edited
N/A
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