| Concept | Preferred name | Synonyms | MONDO ID | Orphanet ID | OMIM phenotype number | Causal gene(s) | Inheritance | Key notes |
|---|---|---|---|---|---|---|---|---|
| Disease group | Cerebellar ataxia, intellectual disability, and dysequilibrium | Dysequilibrium syndrome; DES; CAMRQ; cerebellar ataxia with mental retardation and dysequilibrium | MONDO:0009133 | Orphanet:1766 | — | Genetically heterogeneous; key mapped genes include VLDLR, WDR81, CA8, ATP8A2 | Autosomal recessive | OpenTargets links MONDO:0009133 to VLDLR, WDR81, CA8, ATP8A2 and Orphanet:1766 corresponds to dysequilibrium syndrome; core phenotype is congenital/early-onset ataxia with impaired intellectual development and disequilibrium (pqac-00000000, pqac-00000003, pqac-00000005) |
| Disease group | Dysequilibrium syndrome | DES; CAMRQ; cerebellar ataxia, intellectual disability, and dysequilibrium | — | Orphanet:1766 | — | VLDLR, WDR81, CA8, ATP8A2 | Autosomal recessive | Orphanet disease entity used in OpenTargets; aggregates the genetically heterogeneous CAMRQ spectrum (pqac-00000000, pqac-00000003) |
| Subtype | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | CAMRQ1; VLDLR-associated dysequilibrium syndrome; VLDLR-associated cerebellar hypoplasia | — | — | 224050 | VLDLR | Autosomal recessive | Typically non-progressive; associated with inferior cerebellar hypoplasia and cortical gyral simplification; historically a major cause of DES (pqac-00000003, pqac-00000004, pqac-00000008) |
| Subtype | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 | CAMRQ2; DES2 | MONDO:0012430 | — | 610185 | WDR81 | Autosomal recessive | MONDO subtype in OpenTargets; reported with cerebellar/corpus callosum hypoplasia and variable quadrupedal gait in published families (pqac-00000000, pqac-00000001, pqac-00000003) |
| Subtype | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 | CAMRQ3 | — | — | 613227 | CA8 | Autosomal recessive | CA8-related subtype; MRI findings can include cerebellar atrophy and white matter abnormalities, although imaging may be variable (pqac-00000003) |
| Subtype | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | CAMRQ4 | — | — | 615268 | ATP8A2 | Autosomal recessive | ATP8A2-related subtype; often severe early-onset neuromotor disorder with hypotonia, developmental delay, abnormal movements, and sometimes normal brain MRI despite marked disability (pqac-00000003, pqac-00000009, pqac-00000015) |


*Table: This table summarizes the disease-group and subtype nomenclature for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome, including MONDO, Orphanet, OMIM, and gene mappings. It is useful for harmonizing disease knowledge base entries across aggregated rare-disease resources and subtype-specific literature.*