autosomal recessive spinocerebellar ataxia 18
Findings
No curated finding names autosomal recessive spinocerebellar ataxia 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
Definition from the Mondo Disease Ontology (MONDO:0014530), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- Cerebellar vermis atrophyHPOHP:0006855
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- DysdiadochokinesisHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GRID2HGNC:4576
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: autosomal recessive spinocerebellar ataxia 18
- Also called
- autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiencyautosomal recessive spinocerebellar ataxia type 18GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndromeGRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeSCAR18spinocerebellar ataxia, autosomal recessive type 18