Global Variome shared LOVD

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

Phenotype #0000349769 Individual ID 00462269 Associated disease RNS Phenotype details see paper; ..., underdeveloped midface, flattened forehead, small nose, depressed nasal bridge, anteverted nares, small mouth, narrow palate, epicanthal fold; choanal atresia/stenosis; pectus excavatum, bulbous fingertips; osteosclerosis in the ribs and costovertebral joints; no fractures; intracerebral calcifications; no seizures; hearing loss Diagnosis/Initial Raine syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RNS Age/Examination 01y (1 year) Age/Diagnosis - Age/Onset 00y00m01d 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 11:06:05 +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.