Global Variome shared LOVD
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Phenotype #0000223848
Individual ID
00296435
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 +1.9 SD, OFC +2.6 SD, current height +2.7 SD; no intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; no umbilical hernia; no tumor; advanced bone age; talipes, strabismus, scoliosis
Growth
-
Hypotonia
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
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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