CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME4

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4
CAMRQ4
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615268
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:0002540) Inability to walk 19 / 7739
2
(HPO:0001260) Dysarthria 329 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0002078) Truncal ataxia 41 / 7739
5
(HPO:0002059) Cerebral atrophy 171 / 7739
6
(HPO:0003577) Congenital onset 133 / 7739
7
(HPO:0007371) Corpus callosum atrophy 14 / 7739
8
(HPO:0001272) Cerebellar atrophy 197 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Quadrupedal locomotion (in some patients) 1 / 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 Onat et al. (2013) reported a consanguineous Turkish family in which 4 individuals had a severe neurologic disorder characterized by mental retardation, dysarthria, and truncal ataxia with or without quadrupedal gait. Brain MRI showed mild atrophy of the ...
Molecular genetics OMIM In 3 affected members of a consanguineous Turkish family with cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ4), Onat et al. (2013) identified a homozygous mutation in the ATP8A2 gene (I376M; 605870.0001). The mutation, which was found by ...