ORPHA:208444
Bilateral frontal polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral frontal polymicrogyria | |
| fr | Polymicrogyrie frontale bilatérale | |
| de | Polymikrogyrie, bilaterale frontale | |
| es | Polimicrogiria frontal bilateral | |
| it | Polimicrogiria frontale bilaterale | |
| nl | Bilaterale frontale polymicrogyrie | |
| pt | Polimicrogiria bilateral frontal | |
| pl | Obustronna czołowa polimikrogyria/małozakrętowość | |
| cs | Bilaterální přední polymikrogyrie | |
| uk | Двостороння фронтальна полімікрогірія | |
| zh | 双侧额叶多小脑回 | |
| tr | Bilateral frontal polimikrojiri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0016162 | E | validated | |
| UMLS | C5437679 | E | validated | |
| GARD | 10783 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:268940Bilateral polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
11 annotations · validated 2020-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0001285 | Spastic tetraparesis | |
| Occasional (29-5%) | ||
| HP:0002353 | EEG abnormality | |
| HP:0004302 | Functional motor deficit | |
| HP:0001269 | Hemiparesis | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001250 | Seizure | |
| Excluded (0%) | ||
| HP:0002200 | Pseudobulbar signs | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 10588102[PMID]_17545827[PMID]_10690985[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/208444
- This record as JSON: /data/d/208444.json