tubulinopathy-associated dysgyria
MONDO:0018763Mondo
Findings
No curated finding names tubulinopathy-associated dysgyria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
24 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.
- Abnormal brainstem morphologyHPOHP:0002363
- Very frequent (80% to 99% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Very frequent (80% to 99% of cases)
- Abnormal thalamus morphologyHPOHP:0010663
- Very frequent (80% to 99% of cases)
- Abnormality of the internal capsuleHPOHP:0012502
- Very frequent (80% to 99% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Very frequent (80% to 99% of cases)
- DysgyriaHPOHP:0032398
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ponsHPOHP:0012110
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Abnormal involuntary eye movementsHPOHP:0012547
- Frequent (30% to 79% of cases)
- Abnormal morphology of the olfactory bulbHPOHP:0040327
- Frequent (30% to 79% of cases)
- AgyriaHPOHP:0031882
- Frequent (30% to 79% of cases)
Show the remaining 12
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Oculomotor apraxiaHPOHP:0000657
- Frequent (30% to 79% of cases)
- PachygyriaHPOHP:0001302
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
Other names
1 name
Resolves to: tubulinopathy-associated dysgyria
- Also called
- brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome