Phenotype #0000309731

Individual ID 00418362
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRXS34
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Shay Tzur
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-09-28 20:32:39 +02:00 (CEST)
Date last edited 2026-05-12 08:39:38 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.