Global Variome shared LOVD

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

Phenotype #0000270785 Individual ID 00375571 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no congenital anomalies; mild/moderate intellectual disability; speech delay; developmental delay; normal face; moderate truncal hypotonia; epilepsy; no spasticity; aggressive, hyperactivity; no eyes anomalies; normal ears; normal bones; lumbar hyperlordosis; short fingers, feet syndactyly II-III bilaterally Inheritance Isolated (sporadic) Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-11 18:02:38 +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.