Global Variome shared LOVD
OPA3 (optic atrophy 3 (autosomal recessive, with c...))
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curators:
Andreas Laner
and
Theresa Neuhann
View all genes
View OPA3 gene homepage
View graphs about the OPA3 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene OPA3
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene OPA3
View all variants in gene OPA3
Full data view for gene OPA3
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 OPA3
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene OPA3
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene OPA3
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Phenotype #0000050910
Individual ID
00064752
Associated disease
DD
Phenotype details
see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), attention deficit hyperactivity disorder (HP:0007018), delayed speech and language development (HP:0000750), cerebral palsy (HP:0100021), pes planus (HP:0001763)
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
11y (11 years)
Age/Diagnosis
-
Age/Onset
-
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
2016-05-10 22:02:12 +02:00 (CEST)
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