PEHO syndrome
Findings
No curated finding names PEHO syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
Definition from the Mondo Disease Ontology (MONDO:0009841), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
56 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.
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Abnormal upper lip morphologyHPOHP:0000177
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Very frequent (80% to 99% of cases)
Show the remaining 44
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- HypsarrhythmiaHPOHP:0002521
- Very frequent (80% to 99% of cases)
- Infantile spasmsHPOHP:0012469
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
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.
- ZNHIT3HGNC:12309
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: PEHO syndrome
- Also called
- progressive encephalopathy with edema, hypsarrhythmia and optic atrophyprogressive encephalopathy-optic atrophy syndrome