NDDVD - Neurodegenerative Diseases Variation Database
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
Create a new gene entry
View all transcripts
Create a new transcript information entry
View all variants
View all variants affecting transcripts
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
Create a new disease information entry
View available phenotype columns
View all screenings
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000000004
Individual ID
00006176
Associated disease
ALXDRD
Phenotype details
Clinical characteristics were typical and involved progressive bulbar and gait disturbance, followed by pyramidal and cerebellar impairment, dysautonomia, and cognitive decline.
Inheritance
-
Owner name
XY Liu
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
XY Liu
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center