Bilateral perisylvian polymicrogyria

General Information (adopted from Orphanet):

Synonyms, Signs: PERISYLVIAN SYNDROME, CONGENITAL BILATERAL
PMGX
BPP
CBPS
Number of Symptoms 9
OrphanetNr: 98889
OMIM Id: 300388
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Bilateral polymicrogyria
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001260) Dysarthria 329 / 7739
2
 (HPO:0007024) Pseudobulbar paralysis 7 / 7739
3
 (HPO:0100543) Cognitive impairment 230 / 7739
4
 (HPO:0010522) Dyslexia 7 / 7739
5
 (OMIM) Facial, pharyngeal, and masticatory muscle diplegia 1 / 7739
6
 (HPO:0002126) Polymicrogyria 64 / 7739
7
 (OMIM) Speech and language disorders 1 / 7739
8
 (OMIM) Bilateral perisylvian cortical malformations on MRI 1 / 7739
9
 (OMIM) Atypical absence, atonic/tonic, or tonic-clonic seizures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or ...
Clinical Description OMIM Kuzniecky et al. (1993) studied 31 patients with a congenital neurologic syndrome characterized by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian abnormalities on imaging studies. All patients had diplegia of the facial, pharyngeal, and masticatory muscles, of variable ...