Phenotype #0000345897

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457433
Associated disease	MLID
Diagnosis/Initial	Silver Russell syndrome (multilocus imprinting disturbances)
Diagnosis/Definite	-
Phenotype details	see paper; ..., 39w-birth, weight 2nd centile, OFC normal; micrognathia, hypotonia, feeding difficulties in infancy; childhood facial asymmetry, regrognathia, broad fleshy nasal tip, height 10th-25th centile, weight 90th centile
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-11 15:36:28 +01:00 (CET)
Date last edited	N/A

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