Global Variome shared LOVD

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

Phenotype #0000242402 Individual ID 00320428 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite - Phenotype details no congenital heart disease; facial dysmorphism; global developmental delay; microcephaly; short stature; abnormal white matter; cataract; hypospadias Inheritance Familial, autosomal recessive Age/Examination 3y (3 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 2020-11-29 14:31:42 +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.