Phenotype #0000337078 - Global Variome shared LOVD

Global Variome shared LOVD

INVS (inversin)

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

	Curator: Global Variome, with Curator vacancy

Submit new data

Phenotype #0000337078

Individual ID	00447886
Associated disease	SCA
Phenotype details	see paper; ..., acute episodes of ataxia; 8y-onset febrile seizures (7d); dizziness, ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus (infancy); no permanent ataxia; no learning difficulties; normal psychomotor development
Diagnosis/Initial	ataxia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	SCA27A
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-31 10:24:49 +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.