Global Variome shared LOVD

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Phenotype #0000361366 Individual ID 00081832 Associated disease WVS Diagnosis/Initial Weaver syndrome Diagnosis/Definite WVS2 Phenotype details see paper; ..., birth 41w+3, length 55.6 cm (+3.7SD), weight 3,640 g (+2.9SD), OFC 36.0 cm (+2.1SD); length 155.0 cm (+4.0SD), weight 41.3 kg (+2.3SD), OFC 56.0 cm (+3.1SD); prenatal/postnatal overgrowth; accelerated osseous maturation; severe intellectual disability; macrocephaly; round face; broad forehead; flat occiput; hypertelorism; long philtrum; retrognathia; low nasal bridge; large ears; camptodactyly; prominent chin crease; large hands/feet (compared with overall stature); no skin pigmented nevi; no scoliosis; hypertonia; hoarse/low-pitched cry; excessive loose skin; no hernia; no tumorigenesis; patent ductus arteriosus, mitral valve regurgitation; MRI brain enlarged lateral ventricles, Chiari malformation type I Inheritance Isolated (sporadic) Age/Examination 09y (9 years) Age/Onset - Phenotype/Onset - Age/Diagnosis - Growth - Hypotonia - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2026-04-15 10:28:49 +02:00 (CEST) Date last edited N/A

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