Global Variome shared LOVD

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

Phenotype #0000010354 Individual ID 00011660 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe ID; no normal speech, stereotypic laughter, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, drooling, not walking independently, not ambulant, head circumference -3SD, epilepsy, no sphincter control, normal eye, normal hearing Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-02-15 19:59:01 +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.