Global Variome shared LOVD

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

Phenotype #0000351471 Individual ID 00466085 Associated disease CNMX Phenotype details Decreased fetal movement (HP:0001558), Premature (HP:0001622) (birth at 31 weeks), Neonatal hypotonia (HP:0001319) (with predominant bulbar muscle weakness), Respiratory failure requiring assisted ventilation (HP:0004887), Ophthalmoparesis (HP:0000597) Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite CNMX Age/Examination - Age/Diagnosis 00y04m Age/Onset 00y00m Phenotype/Onset congenital onset Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2025-08-04 16:19:56 +02:00 (CEST) Date last edited 2025-08-06 09:57:27 +02:00 (CEST)

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