Global Variome shared LOVD

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

Phenotype #0000350116 Individual ID 00464055 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 3.69 (SD-0.8); 9.3y-weight 38.8kg (SD1.4), height 124.5cm (SD-1.7), OFC 56.0cm (SD2.50); 30m-walk; 60m-first words; challenging behaviors, autistic traits, anxiety; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; hypermobile joints, painful leg cramps Inheritance Isolated (sporadic) Age/Examination 10.7y 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 2025-02-14 19:45:17 +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.