Global Variome shared LOVD
FGFR3 (fibroblast growth factor receptor 3)
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Curator:
Karen E. Heath
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Phenotype #0000086038
Individual ID
00108444
Associated disease
del 3pterp25
Phenotype details
congenital heart defect, autistic, mental retardation; hypertelorism, ptosis, flat/broad nasal root, long philtrum, downturned corner mouth, low set ears, bilateral overlap 2nd/4th toes over 3rd/5th toes, hypotonic
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Onset
0d
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2012-04-15 15:58:24 +02:00 (CEST)
Date last edited
N/A
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