Global Variome shared LOVD

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

Phenotype #0000291077 Individual ID 00397949 Associated disease WABS Diagnosis/Initial Warsaw breakage syndrome Diagnosis/Definite WABS Phenotype details see paper; ..., family history malignancy; no family history miscarriages; microcephaly; sensorineural hearing loss; abnormal placenta; postnatal growth restriction; intellectual disability; no skin abnormalities; clinodactily; bilateral limitation extension elbow; congenital hypothyroidism; seizures; no heart abnormality; high-arched palate, narrow palate; no feeding problems; diabetes mellitus; no kidney abnormality; hypotelorism Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-12-30 09:50:05 +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.