Phenotype #0000223827

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296414
Associated disease	WVS
Inheritance	Isolated (sporadic)
Age/Onset	-
Diagnosis/Initial	Weaver syndrome
Age/Examination	-
Diagnosis/Definite	WVS
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	birth weight +2 SD, OFC +2.1 SD, current height +2.7 SD; moderate intellectual disability; hypotonia; no camptodactyly; doughy skin; no umbilical hernia; no tumor; advanced bone age;
Growth	-
Hypotonia	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-06 12:22:29 +02:00 (CEST)
Date last edited	N/A

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