Global Variome shared LOVD

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

Phenotype #0000229979 Individual ID 00302897 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, X-linked Phenotype details Intellectual disability (HP:0001249);Neurodevelopmental delay (HP:0012758);Psychomotor retardation (HP:0025356);Behavioral abnormality (HP:0000708);Abnormal facial shape (HP:0001999);Abnormality of the genital system (HP:0000078);Amblyopia (HP:0000646);Bicuspid aortic valve (HP:0001647) Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 02y Phenotype/Onset - Protein O-GlcNAc transferase (OGT) Owner name Joaquin De La Torre Vela Database submission license No license selected Created by Joaquin De La Torre Vela Date created 2020-06-03 16:08:34 +02:00 (CEST) Date last edited 2020-06-04 13:45:35 +02:00 (CEST)

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