Cone-Rod Synaptic Disorder, Congenital Nonprogressive (CRSD)

Alias:
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Night Blindness, Congenital Stationary, Type 2b
Crsds
Crsd
Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive, Formerly
Incomplete Congenital Stationary Night Blindness Autosomal Recessive
Cone-Rod Synaptic Disorder Syndrome, Congenital Non-Progressive
Night Blindness, Congenital Stationary, Type 2b, Formerly
Cone-Rod Synaptic Disorder, Congenital Non-Progressive
Night Blindness, Congenital Stationary, 2b
Incomplete Autosomal Recessive Csnb
Csnb2b, Formerly
Csnb2b
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cone-Rod Synaptic Disorder, Congenital Nonprogressive, also known as cone-rod synaptic disorder syndrome, congenital nonprogressive, is related to non-24-hour sleep-wake syndrome and sleep disorder, and has symptoms including photophobia An important gene associated with Cone-Rod Synaptic Disorder, Congenital Nonprogressive is CABP4 (Calcium Binding Protein 4). Affiliated tissues include heart and brain, and related phenotypes are strabismus and color vision defect
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
15
11

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top