Global Variome shared LOVD

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

Phenotype #0000268055 Individual ID 00372778 Associated disease CLCRP Diagnosis/Initial Cole-Carpenter Syndrome Diagnosis/Definite CLCRP2 Phenotype details see paper; ..., severely disturbed ossification of the skull and multiple fractures Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Raymond Dalgleish Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Raymond Dalgleish Date created 2015-04-16 15:20:10 +02:00 (CEST) Date last edited 2026-01-10 10:32:41 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.