Global Variome shared LOVD

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

Phenotype #0000341643 Individual ID 00452997 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details birth full-term, vaginal delivery, weight 4.17 kg; no intellectual disability (-HP:0001249); no neurodevelopmental delay (-HP:0012758); neonatal torticollis, musculoskeletal abnormalities (HP:0033127); seizure (HP:0001250); no facial dysmorphism -(HP:0001999); MRI brain normal (-HP:0410263); no abnormality genitourinary system (-HP:0000119); no microcephaly (-HP:0000252); no hearing impairment (-HP:0000365); no failure to thrive (-HP:0001508); no congenital heart disease (-HP:0001627); no autistic behavior (-HP:0000729) Inheritance Isolated (sporadic) Age/Examination 12y (12 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 2024-08-10 16:01:26 +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.