Global Variome shared LOVD

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

Phenotype #0000249599 Individual ID 00331407 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite Spondylo-epi-(meta)-physeal dysplasias (SE(M)D) Phenotype details Global developmental delay, Short stature, Scoliosis Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-11 15:29:38 +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.