Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000223844 Individual ID 00296431 Associated disease WVS Inheritance Familial, autosomal dominant Age/Onset - Diagnosis/Initial Weaver syndrome Age/Examination - Diagnosis/Definite WVS Age/Diagnosis - Phenotype/Onset - Phenotype details birth weight +0.7 SD, length +0.7 SD, OFC +1.2 SD, current height +2.3 SD; mild intellectual disability; no hypertonia; hypotonia; no camptodactyly; no doughy skin; umbilical hernia; no tumor; advanced bone age; neonatal hypocalcemia, ventriculomeg 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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