Global Variome shared LOVD

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

Phenotype #0000356903 Individual ID 00472094 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRXSSD Phenotype details see paper; ..., no microcephaly; hypertelosism; low set ears; ear posteriror rotation; broad nasal tip; long face; no cleft lip, no cleft palate; high-arched palate; retrognathia; autism spectrum disorder, attention deficit hyperactivity disorder; developmental dealy; speech delay; moderate intellectual disability; no neonatal hypotonia; gross motor delay; fine motor delay; seizures Inheritance Familial, X-linked recessive Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - 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 2026-01-08 09:31:31 +01:00 (CET) Date last edited N/A

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