CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2

General Information (adopted from Orphanet):

Synonyms, Signs: CAMRQ2
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2
Number of Symptoms 35
OrphanetNr:
OMIM Id: 610185
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000464) Abnormality of the neck 31 / 7739
2
(HPO:0000280) Coarse facial features 189 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0001310) Dysmetria 76 / 7739
5
(HPO:0000750) Delayed speech and language development 197 / 7739
6
(HPO:0001251) Ataxia 413 / 7739
7
(HPO:0001337) Tremor 200 / 7739
8
(HPO:0010864) Intellectual disability, severe 120 / 7739
9
(HPO:0001260) Dysarthria 329 / 7739
10
(HPO:0006887) Intellectual disability, progressive 68 / 7739
11
(HPO:0002078) Truncal ataxia 41 / 7739
12
(HPO:0001265) Hyporeflexia 208 / 7739
13
(HPO:0001263) Global developmental delay 853 / 7739
14
(HPO:0002075) Dysdiadochokinesis 40 / 7739
15
(HPO:0004279) Short palm 323 / 7739
16
(HPO:0002942) Thoracic kyphosis 14 / 7739
17
(HPO:0001773) Short foot 86 / 7739
18
(HPO:0200055) Small hand 71 / 7739
19
(HPO:0002943) Thoracic scoliosis 12 / 7739
20
(HPO:0004322) Short stature 1232 / 7739
21
(HPO:0001007) Hirsutism 91 / 7739
22
(HPO:0002283) Global brain atrophy 12 / 7739
23
(HPO:0007063) Aplasia of the inferior half of the cerebellar vermis 1 / 7739
24
(HPO:0001272) Cerebellar atrophy 197 / 7739
25
(OMIM) Quadrupedal gait (palm of hands, legs straight) with diagonal walking 1 / 7739
26
(OMIM) Wide and short nape of the neck 1 / 7739
27
(OMIM) Absence of language development 1 / 7739
28
(HPO:0007047) Atrophy of the dentate nucleus 3 / 7739
29
(HPO:0003593) Infantile onset 249 / 7739
30
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
31
(OMIM) Truncal ataxia, severe 1 / 7739
32
(OMIM) Head is flexed forward 1 / 7739
33
(OMIM) Skull is flexed forward on the spine 1 / 7739
34
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
35
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).

For a discussion of genetic heterogeneity of CAMRQ, see ...

Clinical Description OMIM Turkmen et al. (2006) reported a consanguineous Turkish family of Kurdish origin in which 5 sibs had cerebellar hypoplasia, mental retardation, and an inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. An affected brother ...
Molecular genetics OMIM In affected members of a consanguineous Turkish family with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2 (Turkmen et al., 2006), Gulsuner et al. (2011) identified a homozygous mutation in the WDR81 gene (P856L; 614218). Homozygosity for ...