Global Variome shared LOVD

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

Phenotype #0000351255 Individual ID 00465813 Associated disease ? Diagnosis/Initial Antley-Bixler syndrome Diagnosis/Definite JDSCD Phenotype details see paper; ..., midface hypoplasia; radio ulnar synostosis; no multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities Inheritance Familial, autosomal recessive Age/Examination - 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 2025-06-05 19:27:43 +02:00 (CEST) Date last edited N/A

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