Global Variome shared LOVD

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

Phenotype #0000130123 Individual ID 00164991 Associated disease DD Phenotype details see paper; ..., Failure to thrive with short stature; feeding difficulties and hypotonia in infancy; cataracts; frontal bossing; renal pelvicaliectasis; developmental delays Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Anne Slavotinek Database submission license No license selected Created by Anne Slavotinek Date created 2018-07-04 01:00:52 +02:00 (CEST) Date last edited 2019-04-11 12:09:33 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.