neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Findings
No curated finding names neurodevelopmental disorder with hypotonia, epilepsy, and absent speech yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent speech.
Definition from the Mondo Disease Ontology (MONDO:0980940), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
77 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
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Aspiration pneumoniaHPOHP:0011951
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Atrophy of the spinal cordHPOHP:0006827
- 1 of 1 reported patient
- Axonal spheroidsHPOHP:6000717
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
Show the remaining 65
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 1 of 1 reported patient
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHPOHP:0003403
- 2 of 2 reported patients
- EMG: myopathic abnormalitiesHPOHP:0003458
- 1 of 1 reported patient
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 recessive · 2026
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
- Also called
- UNC13A-related congenital neurodevelopmental disorder with epilepsy