Global Variome shared LOVD

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

Phenotype #0000281783 Individual ID 00388190 Associated disease DD Phenotype details developmental delay (DD), intellectual disability (ID), short stature, feeding difficulties, ptosis, mild dysmorphism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alexander Groffen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Alexander Groffen Date created 2021-11-02 17:17:18 +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.