Global Variome shared LOVD

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

Phenotype #0000239721 Individual ID 00315976 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no failure to thrive; no globe defect; no coloboma; visual impairment; Intermittent exotropia; motor delay; speech delay; mild intellectual disability; self-injurious and repetitive behaviors; no hypotonia; no cardiac defect; kidney anomaly; bilateral hearing loss; unilateral cryptorchidism; left eye plagiocephaly Inheritance Isolated (sporadic) Age/Examination 18y (18 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 2020-11-01 10:06:29 +01:00 (CET) Date last edited 2022-11-30 19:30:28 +01:00 (CET)

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