ORPHA:208441
Bilateral parasagittal parieto-occipital 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 parasagittal parieto-occipital polymicrogyria | |
| fr | Polymicrogyrie pariéto-occipitale parasagittale bilatérale | |
| de | Polymikrogyrie, bilaterale parasagittale parieto-okzipitale | |
| es | Polimicrogiria parietooccipital parasagital bilateral | |
| it | Polimicrogiria parieto-occipitale parasagittale bilaterale | |
| nl | Bilaterale parasagittale parieto-occipitale polymicrogyrie | |
| pt | Polimicrogiria parieto-occipital parassagital bilateral | |
| pl | Obustronna okołostrzałkowa ciemieniowo-potyliczna polimikrogyria | |
| cs | Bilaterální parasagitální parietookcipitální polymikrogyrie | |
| uk | Двостороння парасагітальна тімяно-потилична полімікрогірія | |
| zh | 双侧矢状旁顶枕叶的多小脑回 | |
| tr | Bilateral parasagittal parieto-oksipital polimikroji |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612691 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.50 | NTBT | index | validated |
| MONDO | 0012986 | E | validated | |
| UMLS | C5437680 | E | validated | |
| GARD | 10785 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FIG4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16873 | ENSG00000112367 | 609390 | 6q21 | FIG4 phosphoinositide 5-phosphatase | 24598713[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
29 annotations · validated 2020-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002539 | Cortical dysplasia | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0100852 | Abnormal fear/anxiety-related behavior | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000951 | Abnormality of the skin | |
| HP:0000718 | Aggressive behavior | |
| HP:0008765 | Auditory hallucinations | |
| HP:0031258 | Delirium | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0001345 | Psychotic mentation | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0031589 | Suicidal ideation | |
| HP:0002367 | Visual hallucinations | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20403963[PMID]_24598713[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/208441
- This record as JSON: /data/d/208441.json