Global Variome shared LOVD

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

Phenotype #0000016087 Individual ID 00017761 Associated disease CISS Phenotype details intermediate; flat nasal bridge (HP:0005280); camptodactyly (HP:0012385); full cheeks (HP:0000293); no large joints (-HP:0005781); cyanosis (HP:0000961); global developmental dealy (HP:0001263); episodic fever (HP:0001954); no foot abnormality (-HP:0001760); poor swallowing (HP:0002015); Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Insa Buers Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-03-04 16:41:11 +01:00 (CET) Date last edited 2020-04-07 11:38:19 +02:00 (CEST)

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