Global Variome shared LOVD

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

Phenotype #0000310254 Individual ID 00418967 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay; developmental delay; intellectual disability; abnormal EEG; no ataxia; hypotonia; spasticity; intermittent esotropia; MRI brain delays in myelination; autism spectrum disorder;, renal anomalies Inheritance Unknown Age/Examination 15y6m (15 years, 6 months) Age/Diagnosis - Age/Onset 8m 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 2022-10-13 21:36:14 +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.