Dysequilibrium syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome
Non-progressive cerebellar ataxia - intellectual deficit
CAMRQ syndrome
Number of Symptoms 34
OrphanetNr: 1766
OMIM Id: 224050
610185
613227
615268
ICD-10: G11.8
UMLs: C0394006
MeSH: C535731
MedDRA: 10013140
Snomed: 230782004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive congenital cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
2
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
3
 (HPO:0000640) Gaze-evoked nystagmus 27 / 7739
4
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
7
 (HPO:0002136) Broad-based gait 30 / 7739
8
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
9
 (HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
10
 (HPO:0002080) Intention tremor 44 / 7739
11
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
12
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
13
 (HPO:0002078) Truncal ataxia 41 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0000750) Delayed speech and language development 197 / 7739
16
 (HPO:0002465) Poor speech 31 / 7739
17
 (HPO:0001310) Dysmetria 76 / 7739
18
 (HPO:0001260) Dysarthria 329 / 7739
19
 (HPO:0001250) Seizures Frequent [Orphanet] rare [HPO:skoehler] 1245 / 7739
20
 (HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
21
 (HPO:0001763) Pes planus 176 / 7739
22
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
23
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
24
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
25
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
27
 (HPO:0001302) Pachygyria 60 / 7739
28
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
29
 (HPO:0009879) Cortical gyral simplification 24 / 7739
30
 (HPO:0001272) Cerebellar atrophy 197 / 7739
31
 (HPO:0003577) Congenital onset 133 / 7739
32
 (HPO:0003680) Nonprogressive disorder 23 / 7739
33
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
34
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: