Global Variome shared LOVD

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

Phenotype #0000333165 Individual ID 00443888 Associated disease NDD Diagnosis/Initial early-infantile onset epilepsy, developmental delay Diagnosis/Definite DEE89 Phenotype details see paper; ..., severe delay, 18m-poor head control achieved, no sitting; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; short arms; severe hypotonia, dysphagia (floppy epiglottis); 2m-onset epilepsy; epileptic spasms; 18m-spasms continue, seizures controlled; EEG onset hypsarrhythmia; 18m4m-EEG no epileptic abnormalities; 6m-cardiovascular MRI normal; diastasis recti Inheritance Familial, autosomal recessive Age/Examination 18m 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 2023-12-05 15:52:20 +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.