alternating hemiplegia of childhood
Findings
No curated finding names alternating hemiplegia of childhood yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.
Definition from the Mondo Disease Ontology (MONDO:0016241), read 2026-09-29. CC BY 4.0.
Features
63 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.
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Very frequent (80% to 99% of cases)
- Episodic hemiplegiaHPOHP:0012194
- Very frequent (80% to 99% of cases)
- Gastrointestinal dysmotilityHPOHP:0002579
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal involuntary eye movementsHPOHP:0012547
- Frequent (30% to 79% of cases)
- AnorexiaHPOHP:0002039
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- DiarrheaHPOHP:0002014
- Frequent (30% to 79% of cases)
Reported absent (2)
- Brain imaging abnormalityHPOHP:0410263
- EEG abnormalityHPOHP:0002353
Show the remaining 51
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- ExotropiaHPOHP:0000577
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- FlushingHPOHP:0031284
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
Where it sits
Other names
7 names
Resolves to: alternating hemiplegia of childhood
- Also called
- adrenal hypoplasia congenitaAHCchildhood alternating hemiplegiacongenital adrenal gland hypoplasiacongenital adrenal Hypoplasiapaediatric alternating hemiplegiapediatric alternating hemiplegia