PEHO-like syndrome
Findings
No curated finding names PEHO-like syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
Definition from the Mondo Disease Ontology (MONDO:0020495), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 3 reported patients · Childhood onset
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- EdemaHPOHP:0000969
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 3 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
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.
- CCDC88AHGNC:25523
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: PEHO-like syndrome
- Also called
- PEHO syndrome-likeprogressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome