lissencephaly due to TUBA1A mutation
Findings
No curated finding names lissencephaly due to TUBA1A mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Definition from the Mondo Disease Ontology (MONDO:0012703), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
33 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Dysgenesis of the basal gangliaHPOHP:0025102
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
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.
- TUBA1AHGNC:20766
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: lissencephaly due to TUBA1A mutation
- Also called
- LIS3lissencephaly 3