Global Variome shared LOVD

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

Phenotype #0000352557 Individual ID 00467350 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, dyspnea Diagnosis/Definite MC1DN16 Phenotype details global developmental delay, hyponatremia, pneumonia, dehydration, vomiting, seizures, dysphagia, feeding difficulties in infancy, cow milk allergy, abdominal distention, muscular hypotonia, hypoplasia corpus callosum, focal T2 hyperintense brainstem lesion, respiratory failure requiring assisted ventilation Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 8m Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 14:40:38 +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.