alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Findings
No curated finding names alopecia-epilepsy-pyorrhea-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007085), read 2026-09-29. CC BY 4.0.
Features
14 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 eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Alopecia universalisHPOHP:0002289
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- GingivitisHPOHP:0000230
- Very frequent (80% to 99% of cases)
- Memory impairmentHPOHP:0002354
- Very frequent (80% to 99% of cases)
Show the remaining 2
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- Melanocytic nevusHPOHP:0000995
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- Also called
- Shokeir syndrome