Global Variome shared LOVD

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

Phenotype #0000280243 Individual ID 00386436 Associated disease skeletal dysplasia Diagnosis/Initial achondroplasia Diagnosis/Definite ACH Phenotype details macrocephaly; rhizomelic members; trident hands; no lordosis; no hydrocephalus; no cloverleaf skull; no bowed femurs Inheritance Unknown Age/Examination 19y (19 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 2021-10-22 16:36:58 +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.