Global Variome shared LOVD

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

Phenotype #0000041564 Individual ID 00053042 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., spondyloepimetaphyseal dysplasia (SEMD), multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age and poorly ossified carpal/tarsal bones Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Fanny Kortüm Database submission license No license selected Created by Johan den Dunnen Date created 2015-12-04 12:40:16 +01:00 (CET) Date last edited 2017-11-17 14:30:38 +01:00 (CET)

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