Alternating hemiplegia of childhood
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AHC Alternating hemiplegia in childhood |
| Number of Symptoms | 9 |
| OrphanetNr: | 2131 |
| OMIM Id: |
104290
614820 |
| ICD-10: |
G98 |
| UMLs: |
C0338488 |
| MeSH: |
C536589 |
| MedDRA: |
|
| Snomed: |
230466004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.9 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alternating hemiplegia
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
|
|
(HPO:0200072) | Episodic quadriplegia | 4 / 7739 | ||||
|
|
(HPO:0001268) | Mental deterioration | 88 / 7739 | ||||
|
|
(HPO:0002069) | Generalized tonic-clonic seizures | typical [HPO:skoehler] | 96 / 7739 | |||
|
|
(HPO:0001266) | Choreoathetosis | 57 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0012194) | Episodic hemiplegia | 3 / 7739 | ||||
|
|
(HPO:0001332) | Dystonia | 197 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|