Phenotype #0000310317

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00419030
Associated disease	CCM
Phenotype details	intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); cerebellar hemangiomas (MRI 2 lesions)
Diagnosis/Initial	cerebral cavernous malformations
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	CCM1
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	8m
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

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