Bilateral frontal polymicrogyria
disease diseaseOn this page
Summary
Bilateral frontal polymicrogyria (MONDO:0016162) is a disease. A subtype of bilateral polymicrogyria — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 11
Clinical features
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000750 | Delayed speech and language development | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0001256 | Intellectual disability, mild | Frequent (30-79%) |
| HP:0001285 | Spastic tetraparesis | Frequent (30-79%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001269 | Hemiparesis | Occasional (5-29%) |
| HP:0002353 | EEG abnormality | Occasional (5-29%) |
| HP:0004302 | Functional motor deficit | Occasional (5-29%) |
| HP:0006801 | Hyperactive deep tendon reflexes | Occasional (5-29%) |
| HP:0002200 | Pseudobulbar signs | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | bilateral frontal polymicrogyria |
| Mondo ID | MONDO:0016162 |
| Orphanet | 208444 |
| DOID | DOID:0080921 |
| ICD-11 | 688947844 |
| UMLS | C5437679 |
| MedGen | 1754014 |
| GARD | 0010783 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of bilateral polymicrogyria. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › polymicrogyria › bilateral polymicrogyria › bilateral frontal polymicrogyria
Related subtypes (4): bilateral frontoparietal polymicrogyria, bilateral parasagittal parieto-occipital polymicrogyria, bilateral generalized polymicrogyria, bilateral perisylvian polymicrogyria
Subtypes (1): complex cortical dysplasia with other brain malformations 7
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.