Global Variome shared LOVD

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

Phenotype #0000221934 Individual ID 00288197 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details ankle contracture, areflexia, autistic features, developmental delay, dry skin, flexion contracture, gait disturbance, hip contracture, hyperextensibility, lordotic gait, muscle atrophy, muscle weakness, myopathy, poor eye contact, toe walking Inheritance Isolated (sporadic) Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +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.