Unilateral focal polymicrogyria

Summary

Unilateral focal polymicrogyria (MONDO:0017093) is a disease. A subtype of unilateral polymicrogyria — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 29

Clinical features

Signs & symptoms

Clinical features (HPO)

29 HPO clinical features (Orphanet curated; top 29 by frequency):

HPO ID	Term	Frequency
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001269	Hemiparesis	Very frequent (80-99%)
HP:0002539	Cortical dysplasia	Very frequent (80-99%)
HP:0011099	Spastic hemiparesis	Very frequent (80-99%)
HP:0011153	Focal motor seizure	Very frequent (80-99%)
HP:0100308	Cerebral cortical hemiatrophy	Very frequent (80-99%)
HP:0001256	Intellectual disability, mild	Frequent (30-79%)
HP:0001268	Mental deterioration	Frequent (30-79%)
HP:0002342	Intellectual disability, moderate	Frequent (30-79%)
HP:0007018	Attention deficit hyperactivity disorder	Frequent (30-79%)
HP:0007334	Bilateral tonic-clonic seizure with focal onset	Frequent (30-79%)
HP:0007377	Abnormality of somatosensory evoked potentials	Frequent (30-79%)
HP:0012015	EEG with frontal focal spikes	Frequent (30-79%)
HP:0012018	EEG with temporal focal spikes	Frequent (30-79%)
HP:0000020	Urinary incontinence	Occasional (5-29%)
HP:0000718	Aggressive behavior	Occasional (5-29%)
HP:0000758	Impaired use of nonverbal behaviors	Occasional (5-29%)
HP:0001335	Bimanual synkinesia	Occasional (5-29%)
HP:0002354	Memory impairment	Occasional (5-29%)
HP:0002384	Focal impaired awareness seizure	Occasional (5-29%)
HP:0002463	Language impairment	Occasional (5-29%)
HP:0007010	Poor fine motor coordination	Occasional (5-29%)
HP:0007229	Intracerebral periventricular calcifications	Occasional (5-29%)
HP:0011171	Simple febrile seizures	Occasional (5-29%)
HP:0012014	EEG with central focal spikes	Occasional (5-29%)
HP:0012016	EEG with occipital focal spikes	Occasional (5-29%)
HP:0012017	EEG with parietal focal spikes	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	unilateral focal polymicrogyria
Mondo ID	MONDO:0017093
Orphanet	268947
DOID	DOID:0080919
ICD-11	1006662041
UMLS	C5680773
MedGen	1842371
GARD	0020981
Is cancer (heuristic)	no

Disease family

This is a subtype of unilateral 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 › unilateral polymicrogyria › unilateral focal polymicrogyria

Related subtypes (1): unilateral hemispheric polymicrogyria

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.