Global Variome shared LOVD

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

Phenotype #0000203419 Individual ID 00265632 Associated disease JBTS1 Inheritance Familial, autosomal recessive Phenotype details HP:0001263 HP:0001251 HP:0001249 HP:0002553 HP:0000508 HP:0000657 HP:0002793 HP:0001252 HP:0001320 HP:0100951 HP:0002419 HP:0000007 Diagnosis/Initial Cerebral palsy Age/Examination 10y (10 years) Diagnosis/Definite Joubert syndrome Age/Diagnosis 10y Age/Onset 02y Phenotype/Onset - Protein - Owner name Minh Tuan Huynh Database submission license No license selected Created by Minh Tuan Huynh Date created 2019-09-29 11:29:41 +02:00 (CEST) Date last edited 2019-09-30 09:01:34 +02:00 (CEST)

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