Ataxia - deafness - intellectual disability syndrome

Summary

Ataxia - deafness - intellectual disability syndrome (MONDO:0008838) is a disease. A subtype of X-linked cerebellar ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 17

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

17 HPO clinical features (Orphanet curated; top 17 by frequency):

HPO ID	Term	Frequency
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000486	Strabismus	Very frequent (80-99%)
HP:0000639	Nystagmus	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001251	Ataxia	Very frequent (80-99%)
HP:0000174	Abnormal palate morphology	Frequent (30-79%)
HP:0000762	Decreased nerve conduction velocity	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001315	Reduced tendon reflexes	Frequent (30-79%)
HP:0002119	Ventriculomegaly	Frequent (30-79%)
HP:0002120	Cerebral cortical atrophy	Frequent (30-79%)
HP:0002167	Abnormality of speech or vocalization	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003457	EMG abnormality	Frequent (30-79%)
HP:0007360	Aplasia/Hypoplasia of the cerebellum	Frequent (30-79%)
HP:0001382	Joint hypermobility	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	ataxia - deafness - intellectual disability syndrome
Mondo ID	MONDO:0008838
MeSH	C535295
OMIM	208850
Orphanet	1188
ICD-11	2133046984
SNOMED CT	720517001
UMLS	C0796045
MedGen	208659
GARD	0004644
Is cancer (heuristic)	no

Also known as: ataxia, hearing loss, and intellectual disability · ataxia, hearing loss, and mental retardation · ataxia-hearing loss-intellectual disability syndrome · familial ataxia, deafness, and developmental delay · Reardon Wilson Cavanagh syndrome · Reardon-Baraitser syndrome

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › X-linked cerebellar ataxia › ataxia - deafness - intellectual disability syndrome

Related subtypes (8): fragile X-associated tremor/ataxia syndrome, X-linked non progressive cerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked spinocerebellar ataxia type 3, X-linked spinocerebellar ataxia type 4, X-linked progressive cerebellar ataxia, spinocerebellar ataxia, X-linked 2, X-linked intellectual disability-ataxia-apraxia syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.