Global Variome shared LOVD

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

Phenotype #0000359471 Individual ID 00474677 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAOP Phenotype details see paper; ..., mild follicular keratosis, ichthyosis, generalized alopecia, photophobia, red and swollen gums, psoriasis‐like lesions, paronychia, psoriasiform perivasculitis, bilateral cataracts; developmental delay Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) 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 2026-03-20 14:19:44 +01:00 (CET) Date last edited N/A

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