ORPHA:98889
Bilateral perisylvian polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- 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 perisylvian polymicrogyria | |
| fr | Polymicrogyrie bilatérale périsylvienne | |
| de | Polymikrogyrie, bilaterale perisylvische | |
| es | Polimicrogiria perisilviana bilateral | |
| it | Polimicrogiria perisilviana bilaterale | |
| nl | Bilaterale perisylvische polymicrogyrie | |
| pt | Polimicrogiria, bilateral, perisilviana | |
| pl | Obustronna drobnozakrętowość okołosylwialna | |
| cs | Bilaterální perisylviální polymikrogyrie | |
| uk | Двостороння перисильвіозна полімікрогірія | |
| zh | 双侧脑外侧裂多微小脑回 | |
| tr | Bilateral perisylvian polimikrogri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300388 | BTNT | validated | |
| OMIM | 615752 | BTNT | validated | |
| OMIM | 616531 | BTNT | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0020340 | E | validated | |
| UMLS | C1845668 | E | validated | |
| GARD | 6011 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:2431Central bilateral macrogyria moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRPX2 | Candidate gene tested in | Not yet assessed | HGNC:30668 | ENSG00000102359 | 300642 | Xq22.1 | sushi repeat containing protein X-linked 2 | 16497722[PMID] |
| ADGRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4512 | ENSG00000205336 | 604110 | 16q21 | adhesion G protein-coupled receptor G1 | 24531968[PMID] |
| PI4KA | Disease-causing germline mutation(s) in | Assessed | HGNC:8983 | ENSG00000241973 | 600286 | 22q11.21 | phosphatidylinositol 4-kinase alpha | 25855803[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
49 annotations · validated 2020-09-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0032407 | Bilateral perisylvian polymicrogyria | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0005684 | Distal arthrogryposis | |
| HP:0012014 | EEG with central focal spikes | |
| HP:0012017 | EEG with parietal focal spikes | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0001371 | Flexion contracture | |
| HP:0008947 | Floppy infant | |
| HP:0007359 | Focal-onset seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0020190 | Perisylvian predominant thick cortex pachygyria | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| HP:0001328 | Specific learning disability | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0002104 | Apnea | |
| HP:0002835 | Aspiration | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000453 | Choanal atresia | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002015 | Dysphagia | |
| HP:0012015 | EEG with frontal focal spikes | |
| HP:0011755 | Ectopic posterior pituitary | |
| HP:0001349 | Facial diplegia | |
| HP:0011968 | Feeding difficulties | |
| HP:0011157 | Focal sensory seizure | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0012469 | Infantile spasms | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002509 | Limb hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000639 | Nystagmus | |
| HP:0007301 | Oromotor apraxia | |
| HP:0002385 | Paraparesis | |
| HP:0000767 | Pectus excavatum | |
| HP:0010808 | Protruding tongue | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0002510 | Spastic tetraplegia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 19559633[PMID]_30680716[PMID]_24888723[PMID]_27625275[PMID]_21273507[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98889
- This record as JSON: /data/d/98889.json