Global Variome shared LOVD

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

Phenotype #0000341674 Individual ID 00453029 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite ACCPN Phenotype details early onset severe intellectual disability, hypotonia areflexia, mild dysmorphic facial features; dysarthric, strabismus, unable to stand/walk Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Muhammad Umair Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-15 18:41:07 +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.