ORPHA:208447
Bilateral generalized polymicrogyria
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- 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 generalized polymicrogyria | |
| fr | Polymicrogyrie généralisée bilatérale | |
| de | Polymikrogyrie, bilaterale generalisierte | |
| es | Polimicrogiria generalizada bilateral | |
| it | Polimicrogiria generalizzata bilaterale | |
| nl | Bilaterale gegeneraliseerde polymicrogyrie | |
| pt | Polimicrogiria bilateral generalizada | |
| pl | Obustronna uogólniona polimikrogyria/małozakrętowość | |
| cs | Generalizovaná bilaterální polymikrogyrie | |
| uk | Двостороння генералізована полімікрогірія | |
| zh | 双侧全脑多微小脑回 | |
| tr | Bilateral jeneralize polimikrogri |
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 | 0013907 | E | validated | |
| UMLS | C5139324 | E | validated | |
| GARD | 10786 | 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 |
|---|---|---|---|---|---|---|---|---|
| GRIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4584 | ENSG00000176884 | 138249 | 9q34.3 | glutamate ionotropic receptor NMDA type subunit 1 | 29365063[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
51 annotations · validated 2020-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031936 | Delayed ability to walk | |
| HP:0002194 | Delayed gross motor development | |
| HP:0012736 | Profound global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0100022 | Abnormality of movement | |
| HP:0000708 | Atypical behavior | |
| HP:0008936 | Axial hypotonia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0011968 | Feeding difficulties | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002300 | Mutism | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0010819 | Atonic seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007204 | Diffuse white matter abnormalities | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0025097 | Eyelid myoclonus | |
| HP:0010821 | Focal emotional seizure with laughing | |
| HP:0011153 | Focal motor seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001510 | Growth delay | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0005216 | Impaired mastication | |
| HP:0012469 | Infantile spasms | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000252 | Microcephaly | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0010553 | Oculogyric crisis | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0007166 | Paroxysmal dyskinesia | |
| HP:0100716 | Self-injurious behavior | |
| HP:0011344 | Severe global developmental delay | |
| HP:0004322 | Short stature | |
| HP:0002360 | Sleep abnormality | |
| HP:0002133 | Status epilepticus | |
| HP:0007824 | Total ophthalmoplegia | |
| HP:0011147 | Typical absence seizure | |
| HP:0012704 | Widened subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0002376 | Developmental regression | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29365063[PMID]_31219694[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/208447
- This record as JSON: /data/d/208447.json