Global Variome shared LOVD

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

Phenotype #0000331170 Individual ID 00441751 Associated disease ? Diagnosis/Initial skeletal dysplasia Diagnosis/Definite - Phenotype details see paper; ..., speech delay; motor delay; abnormal EEG without seizure, cognitive delay, ADHD, anxiety; MRI foreshortened corpus callosum, mildly prominent ventricular system, widening foramen of Magendie; microcephaly; dysmorphism; spondyloepimetaphyseal dysplasia, scoliosis and spinal fusion, short stature; chronic constipation, periodic limb movement disorder Inheritance Isolated (sporadic) Age/Examination 15y (15 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 2023-11-10 18:34:41 +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.