cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome

Term ID

DOID:0050997

Synonyms

CAMRQ
CAMRQ syndrome
cerebellar ataxia and mental retardation with or without quadrupedal locomotion
cerebellar ataxia, mental retardation, and disequilibrium syndrome
cerebellar ataxia, mental retardation, and dysequilibrium syndrome
DES
disequilibrium syndrome
dysequilibrium syndrome
Uner Tan syndrome
UTS

Definition

A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (4)

References

GARD:1998
MESH:C535731
MIM:PS224050
ORDO:1766
UMLS_CUI:C0394006

Ontology

Human Disease ( DOID:0050997 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4

cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models