Bilateral frontoparietal polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral frontoparietal polymicrogyria | |
| fr | Polymicrogyrie bilatérale frontopariétale | |
| de | Polymikrogyrie, bilaterale frontoparietale | |
| es | Polimicrogiria bilateral frontoparietal | |
| it | Polimicrogiria frontoparietale bilaterale | |
| nl | Bilaterale frontopariëtale polymicrogyrie | |
| pt | Polimicrogiria, bilateral, frontoparietal | |
| pl | Obustronna czołowo-skroniowa polimikrogyria | |
| cs | Bilaterální hemisférická polymikrogyrie | |
| uk | Двостороння лобно-тімяна полімікрогірія | |
| zh | 双侧额顶叶多小脑回畸形 | |
| tr | Bilateral frontoparietal polimikrojiri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606854 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0011738 | E | validated | |
| MeSH | C564652 | E | validated | |
| UMLS | C1847352 | E | validated | |
| GARD | 10784 | 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 (1):
- ORPHA:268940Bilateral polymicrogyria
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADGRG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4512 | ENSG00000205336 | 604110 | 16q21 | adhesion G protein-coupled receptor G1 | 21349848[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
24 annotations · validated 2020-09-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007033 | Cerebellar dysplasia | |
| HP:0007266 | Cerebral dysmyelination | |
| HP:0002539 | Cortical dysplasia | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000565 | Esotropia | |
| HP:0002141 | Gait imbalance | |
| HP:0001263 | Global developmental delay | |
| HP:0012110 | Hypoplasia of the pons | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002463 | Language impairment | |
| Occasional (29-5%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0040194 | Increased head circumference | |
| HP:0000252 | Microcephaly | |
| HP:0000486 | Strabismus | |
| HP:0011147 | Typical absence seizure | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20331704[PMID]_12730993[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101070
- This record as JSON: /data/d/101070.json