Global Variome shared LOVD

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

Phenotype #0000010350 Individual ID 00011655 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe ID; no normal speech, no stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -3SD, height 125cm, no epilipsy, sphincter control, normal eye, normal hearing, no overweight Age/Examination 11y (11 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 17:40:19 +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.