Log In|Sign Up
ENRichards-Rundle Syndrome (RRNS)
Alias:
Ketoaciduria-Intellectual Disability-Ataxia-Hearing Loss Syndrome
Ketoaciduria-Intellectual Disability-Ataxia-Deafness Syndrome
Ataxia-Deafness-Mental Retardation Syndrome
Rrns
Favorite
Richards-Rundle Syndrome, also known as ketoaciduria-intellectual disability-ataxia-hearing loss syndrome, is related to hypogonadism and neurofibromatosis, and has symptoms including ataxia and cerebellar ataxia. Affiliated tissues include spinal cord and bone, and related phenotypes are ataxia and gait disturbance
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
