CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3
CAMRQ3
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613227
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000486) Strabismus 576 / 7739
2
(HPO:0001251) Ataxia 413 / 7739
3
(HPO:0001337) Tremor 200 / 7739
4
(HPO:0001350) Slurred speech 16 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0001256) Intellectual disability, mild 141 / 7739
7
(OMIM) Quadrupedal gait 2 / 7739
8
(HPO:0003577) Congenital onset 133 / 7739
9
(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. (2009) reported a consanguineous Iraqi family in which 4 of 8 sibs had congenital ataxia, mild mental retardation, and dysarthria. All walked with a quadrupedal gait, with straight legs and placing their weight on the ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of a consanguineous Iraqi family with ataxia and mild mental retardation, Turkmen et al. (2009) identified a homozygous mutation in the CA8 gene (S100P; 114815.0001).

By homozygosity ...