Global Variome shared LOVD

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

Phenotype #0000349765 Individual ID 00462265 Associated disease RNS Phenotype details see paper; ..., exorbitism, hypoplastic nose, midface hypoplasia; small mouth, down-curved corners; distinct pattern of intracranial calcification Diagnosis/Initial Raine syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RNS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-07 10:04:52 +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.