Phenotype #0000070610

Global Variome shared LOVD

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

Individual ID	00092274
Associated disease	WDSTS
Inheritance	Familial, autosomal dominant
Diagnosis/Initial	-
Birth_Details	-
Diagnosis/Definite	-
Age/Examination	-
Height-Weight-OFC	-
Phenotype details	mild IDD, dysmorphisms, short stature, hairy elbows, dysautonomia, paroxysmal episodes, syncope, migraines, fusion of C2-C3 vertebrae, 11 pairs of ribs, 5th finger clinodactyly and camptodactyly; low copper & ceruloplasmin
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-16 19:09:22 +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.