Global Variome shared LOVD

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

Phenotype #0000041511 Individual ID 00054835 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Severe ID; Absence of speech; Motor delay; Sleep disturbances; automutilation; Epilepsy; Toe walking; normal vision; abnormal breathing pattern; neonatal feeding problems; hernia diafragmatica; pubertas tarda; nromal MRI; born after 42w of uncomplicated pregnancy; severe intellectual disability (HP:0010864); no speech (HP:0001344) Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lisenka Vissers Database submission license No license selected Created by Lisenka Vissers Date created 2015-11-27 14:14:04 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.