Ataxia-deafness-retardation syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ADR SYNDROME
Reardon-Baraitser syndrome
Number of Symptoms 22
OrphanetNr: 1188
OMIM Id: 208850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 8 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
X-linked cerebellar ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
2
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
3
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
4
 (HPO:0000365) Hearing impairment 539 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
 (HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
10
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
11
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
12
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
13
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
15
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
16
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
17
 (HPO:0003457) EMG abnormality Frequent [Orphanet] 78 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
21
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
22
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berman et al. (1973) described 3 black brothers with infantile onset of progressive ataxia, hearing loss, mental retardation and signs of both upper and lower motor neuron disease. The disorder is different from the Richards-Rundle syndrome (245100), although ...