ORPHA:268940
Bilateral polymicrogyria
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral polymicrogyria | |
| fr | Polymicrogyrie bilatérale | |
| de | Polymikrogyrie, bilaterale | |
| es | Polimicrogiria bilateral | |
| it | Polimicrogiria bilaterale | |
| nl | Bilaterale polymicrogyrie | |
| pt | Polimicrogiria bilateral | |
| pl | Obustronna małozakrętowość | |
| cs | Bilaterální polymikrogyrie | Nonlissencefalická kortikální dysplázie bilaterální |
| uk | Двостороння полімікрогірія | |
| zh | 双侧多小脑回 | |
| tr | Bilateral polimikrogri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300388 | BTNT | validated | |
| OMIM | 606854 | BTNT | validated | |
| OMIM | 612691 | 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 | 0017091 | E | validated | |
| UMLS | C4707565 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:35981Polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
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Genes
0 direct · 6 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SRPX2 | ORPHA:98889Bilateral perisylvian polymicrogyria | Candidate gene tested in | Not yet assessed | HGNC:30668 | ENSG00000102359 | 300642 | Xq22.1 | sushi repeat containing protein X-linked 2 | 16497722[PMID] |
| FIG4 | ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16873 | ENSG00000112367 | 609390 | 6q21 | FIG4 phosphoinositide 5-phosphatase | 24598713[PMID] |
| ADGRG1 | ORPHA:98889Bilateral perisylvian polymicrogyria | Disease-causing germline mutation(s) in | Assessed | HGNC:4512 | ENSG00000205336 | 604110 | 16q21 | adhesion G protein-coupled receptor G1 | 24531968[PMID] |
| ADGRG1 | ORPHA:101070Bilateral frontoparietal polymicrogyria | Disease-causing germline mutation(s) in | Assessed | HGNC:4512 | ENSG00000205336 | 604110 | 16q21 | adhesion G protein-coupled receptor G1 | 21349848[PMID] |
| GRIN1 | ORPHA:208447Bilateral generalized polymicrogyria | Disease-causing germline mutation(s) in | Assessed | HGNC:4584 | ENSG00000176884 | 138249 | 9q34.3 | glutamate ionotropic receptor NMDA type subunit 1 | 29365063[PMID] |
| PI4KA | ORPHA:98889Bilateral perisylvian polymicrogyria | Disease-causing germline mutation(s) in | Assessed | HGNC:8983 | ENSG00000241973 | 600286 | 22q11.21 | phosphatidylinositol 4-kinase alpha | 25855803[PMID] |
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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.
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HPO phenotypes
44 annotations · validated 2019-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0007362 | Aplasia/Hypoplasia of the brainstem | |
| HP:0012429 | Aplasia/Hypoplasia of the cerebral white matter | |
| HP:0009878 | Cerebellar ataxia associated with quadrupedal gait | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0000750 | Delayed speech and language development | |
| HP:0010522 | Dyslexia | |
| HP:0000565 | Esotropia | |
| HP:0007359 | Focal-onset seizure | |
| HP:0004302 | Functional motor deficit | |
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002463 | Language impairment | |
| HP:0001268 | Mental deterioration | |
| HP:0001270 | Motor delay | |
| HP:0002200 | Pseudobulbar signs | |
| HP:0011099 | Spastic hemiparesis | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0006818 | 4-layered lissencephaly | |
| HP:3000047 | Abnormal glossopharyngeal nerve morphology | |
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0011787 | Central hypothyroidism | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0001349 | Facial diplegia | |
| HP:0011968 | Feeding difficulties | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0012469 | Infantile spasms | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000347 | Micrognathia | |
| HP:0012650 | Perisylvian polymicrogyria | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000183 | Tongue muscle weakness | |
| HP:0000154 | Wide mouth | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23750890[PMID]_18991192[PMID]_15863665[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/268940
- This record as JSON: /data/d/268940.json