Global Variome shared LOVD

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

Phenotype #0000037312 Individual ID 00050700 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details macrocephaly, mild short stature, drooling, pigmented nevi, short tapering fingers, abnormality of the palpebral fissures, abnormality of the curvature of the vertebral column, specific learning disability, abnormality of the outer ear, hypoplasia of the primary teeth Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-27 16:16:40 +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.