developmental and epileptic encephalopathy, 16
Findings
No curated finding names developmental and epileptic encephalopathy, 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
Definition from the Mondo Disease Ontology (MONDO:0014133), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Clonic seizureHPOHP:0020221
- 2 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Sudden unexpected death in epilepsyHPOHP:0033258
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.
- TBC1D24HGNC:29203
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: developmental and epileptic encephalopathy, 16
- Also called
- DEE16developmental and epileptic encephalopathy 16EIEE16epileptic encephalopathy, early infantile, 16epileptic encephalopathy, early infantile, type 16