Phenotype #0000310360

Global Variome shared LOVD

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

Individual ID	00419073
Associated disease	CCM
Phenotype details	headache/migraine (HP:0002076); epilepsy (HP:0001250); fatigable weakness skeletal muscles (HP:0030197); cerebellar hemangiomas; bilateral lesions
Diagnosis/Initial	cerebral cavernous malformations
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CCM2
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	16y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-14 17:28:02 +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.