Global Variome shared LOVD

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

Phenotype #0000326766 Individual ID 00436630 Associated disease CRS Phenotype details see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects Diagnosis/Initial craniosynostosis Inheritance Familial, autosomal dominant Diagnosis/Definite BRMUTD Age/Examination 13y (13 years) 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 2023-09-25 19:27:02 +02:00 (CEST) Date last edited N/A

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