Richards-Rundle syndrome(RRS)

MedGen UID:: 163219
•Concept ID:: C0796136
•: Disease or Syndrome

Synonyms:	ATAXIA-DEAFNESS-MENTAL RETARDATION SYNDROME; Ataxia-deafness-retardation syndrome with ketoaciduria; Familial ataxia-hypogonadism syndrome; Ketoaciduria-mental deficiency syndrome; RRS
SNOMED CT:	Richards-Rundle syndrome (715415005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009493
OMIM®:	245100
Orphanet:	ORPHA1399

Definition

An extremely rare neurodegenerative disorder characterised by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRichards-Rundle syndrome

Hereditary ataxia
- Richards-Rundle syndrome

Follow this link to review classifications for Richards-Rundle syndrome in Orphanet.

MedGen

National Center for Biotechnology Information

Send to:

Richards-Rundle syndrome(RRS)

Definition

Term Hierarchy

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity