Polymicrogyria
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant
- Age of onset
- Childhood
- Status
- active
A heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents with variable combinations of neurological symptoms of varying severity such as epilepsy, developmental delay, intellectual disability, motor dysfunction (e.g. spasticity), and pseudobulbar palsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polymicrogyria | |
| fr | Polymicrogyrie | |
| de | Polymikrogyrie | |
| es | Polimicrogiria | |
| it | Polimicrogiria | |
| nl | Polymicrogyrie | |
| pt | Polimicrogiria | |
| pl | Polimikrogyria | |
| cs | Polymikrogyrie | |
| uk | Полімікрогірія | |
| zh | 多小脑回 | |
| tr | Polimikrogiri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LA05.50 | E | specific | validated |
| MONDO | 0000087 | E | validated | |
| MONDO | 87 | E | validated | |
| MeSH | D065706 | E | validated | |
| UMLS | C0266464 | E | validated | |
| MedDRA | 10073489 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:163209Non-syndromic cerebral malformation due to abnormal neuronal migration
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:2925OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35981
- This record as JSON: /data/d/35981.json