Global Variome shared LOVD
MPDU1 (mannose-P-dolichol utilization defect 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Gert Matthijs
View all genes
View MPDU1 gene homepage
View graphs about the MPDU1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MPDU1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MPDU1
View all variants in gene MPDU1
Full data view for gene MPDU1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MPDU1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MPDU1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MPDU1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000318771
Individual ID
00427797
Associated disease
epilepsy
Phenotype details
intellectual disability; febrile seizures, tonic, generalized tonic-clonic, frequency 5-6/d; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs
Diagnosis/Initial
Lennox-Gastaut syndrome
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
20y (20 years)
Age/Diagnosis
-
Age/Onset
6y
Phenotype/Onset
-
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2022-12-13 13:20:24 +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.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators