Global Variome shared LOVD

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

Phenotype #0000283604 Individual ID 00390065 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Severe intellectual disability, developmental delay, self-injurous behaviour, absent speech, hypotonia, contractures of upper limbs, hand flapping, scoliosis, macrostomia, broad nasal tip, squint, irregular menses, facial dysmorphic features Inheritance Isolated (sporadic) Age/Examination 22y (22 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 2021-11-09 16:34:00 +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.