Global Variome shared LOVD

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

Phenotype #0000318899 Individual ID 00427954 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSR Inheritance Familial, X-linked recessive Phenotype details see paper; ..., mild developmental delay, mild mental retardation; significant behavioral problems, aggressiveness to others and himself, head banging; significant speech delay; no autistic features; sleep difficulties, disturbances initiating sleep, frequent awakening; normal growth; no dysmorphic features; esotropia; MRI brain 4y-paucity of white matter, patchy white matter hyperintensities on T2 weighted images; brother milder developmental delay Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - 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 2022-12-17 10:46:53 +01:00 (CET) Date last edited 2022-12-17 10:52:22 +01:00 (CET)

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