developmental and epileptic encephalopathy, 55
Findings
No curated finding names developmental and epileptic encephalopathy, 55 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 onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.
Definition from the Mondo Disease Ontology (MONDO:0033364), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Decreased head circumferenceHPOHP:0040195
- Feeding difficultiesHPOHP:0011968
- Growth delayHPOHP:0001510
- Reduced eye contactHPOHP:0000817
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.
- PIGPHGNC:3046
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 55
- Also called
- DEE55developmental and epileptic encephalopathy 55EIEE55epileptic encephalopathy, early infantile, 55