Phenotype #0000223828

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296415
Associated disease	WVS
Inheritance	Unknown
Age/Onset	-
Diagnosis/Initial	Weaver syndrome
Age/Examination	-
Diagnosis/Definite	WVS
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	birth weight +4.2 SD, length +4.2 SD, OFC +2.9 SD, current height +4.2 SD; severe intellectual disability; hypertonia; hypotonia; camptodactyly; doughy skin; umbilical hernia; no tumor; advanced bone age; scoliosis, clinodactyly, “boutonniere”
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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