Global Variome shared LOVD

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

Phenotype #0000223868 Individual ID 00296456 Associated disease ? Diagnosis/Initial Weaver syndrome Diagnosis/Definite IMMAS Phenotype details see paper; ..., overgrowth; no macrocephaly; prominent forehead or increased bifrontal diameter; no prominent supraorbital ridges; round face; no hypertelorism; no downslanting palpebral fissures; no low or broad nasal bridge; no developmental delay; no intellectual disability; no hypotonia; toe camptodactyly or clinodactyly; Bilateral short fifth toes; hypertrichosis; no pigmented nevi; Nail hypoplasia of fifth toes; umbilical hernias Inheritance Isolated (sporadic) Age/Examination 09y04m (9 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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 16:05:30 +02:00 (CEST) Date last edited 2020-04-06 17:25:20 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.