developmental and epileptic encephalopathy, 48
Findings
No curated finding names developmental and epileptic encephalopathy, 48 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.
Definition from the Mondo Disease Ontology (MONDO:0015000), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
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.
- Axial hypotoniaHPOHP:0008936
- 12 of 12 reported patients
- Delayed ability to sitHPOHP:0025336
- 11 of 11 reported patients
- Delayed ability to walkHPOHP:0031936
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Reduced eye contactHPOHP:0000817
- 11 of 11 reported patients
- SeizureHPOHP:0001250
- 8 of 8 reported patients
- MicrocephalyHPOHP:0000252
Show the remaining 12
- Absent speechHPOHP:0001344
- 4 of 12 reported patients
- Limb hypertoniaHPOHP:0002509
- 4 of 12 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 11 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 12 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 12 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 12 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.
- AP3B2HGNC:567
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 48
- Also called
- AP3B2 early infantile epileptic encephalopathyDEE48developmental and epileptic encephalopathy 48early infantile epileptic encephalopathy caused by mutation in AP3B2EIEE48epileptic encephalopathy, early infantile, 48epileptic encephalopathy, early infantile, 48; EIEE48epileptic encephalopathy, early infantile, type 48