Phenotype #0000319026

Global Variome shared LOVD

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

Individual ID	00428081
Associated disease	SCA
Phenotype details	40y-onset ataxia; impaired walking; no psychiatric episodes; no gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; moderate gait ataxia; CTbrain 60y-normal
Diagnosis/Initial	cerebellar ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA27
Age/Examination	64y (64 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 14:12:23 +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.