Global Variome shared LOVD

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

Phenotype #0000355443 Individual ID 00470294 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., prenatal growth anomalies; birth 23w; premature birth; normal birth weight; bleeding; behavioural anomalies; no autism; no intellectual disability, no developmental delay; no seizures; no hypotonia; no sleep problems; feeding difficulties/failure to thrive, dysphagia; pain; no hearing loss; normal vision; no cleft palate/no palatal anomalies; atrial septal defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 34y (34 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 2025-11-30 10:24:36 +01:00 (CET) Date last edited N/A

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