Global Variome shared LOVD

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

Phenotype #0000061463 Individual ID 00081818 Associated disease PHP1A Phenotype details normal stature; intellectual disability (HP:0001249); round face (HP:0000311); obesity (HP:0001513); brachydactyly, type E (HP:0005863); ectopic ossification (HP:0011986); Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis 08y Age/Onset 04y Phenotype/Onset - Protein - Owner name Guiomar Perez de Nanclares Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guiomar Perez de Nanclares Date created 2016-10-24 13:34:52 +02:00 (CEST) Date last edited 2021-10-19 15:59:52 +02:00 (CEST)

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