neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Findings
No curated finding names neurodevelopmental disorder with speech delay, movement abnormalities, and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of developmental delay and intellectual disability, seizures of various types, and tremor and dyskinetic movements, with death in early childhood in some cases.
Definition from the Mondo Disease Ontology (MONDO:0980941), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
57 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Action tremorHPOHP:0002345
- 1 of 1 reported patient
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
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.
- UNC13AHGNC:23150
- Definitive · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
- Also called
- UNC13A-related neurodevelopmental disorder with seizures and movement disorder