Global Variome shared LOVD

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

Phenotype #0000015299 Individual ID 00016932 Associated disease MRX;IDX Phenotype details moderate-severe intellectual disability, occasional aggressive outbursts, microcephaly, height 180 cm (75th centile), weight 65 kg (25-50th centile), OFC 52 cm (<3rd centile); 3 affected male maternal cousins, 1 hydrocephalus died shortly after birth, 1 died age 3y, 1 moderate intellectual disability Diagnosis/Initial intellectual disability Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Tzschach Database submission license No license selected Created by Andreas Tzschach Date created 2014-05-30 13:24:41 +02:00 (CEST) Date last edited 2021-12-02 10:37:51 +01:00 (CET)

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