Bilateral polymicrogyria

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 268940
OMIM Id: 300388
606854
610031
612691
614833
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0100543) Cognitive impairment 230 / 7739
2
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
 (HPO:0010522) Dyslexia 7 / 7739
4
 (HPO:0007270) Atypical absence seizures 3 / 7739
5
 (HPO:0007024) Pseudobulbar paralysis 7 / 7739
6
 (HPO:0000750) Delayed speech and language development 197 / 7739
7
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
8
 (HPO:0002126) Polymicrogyria 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: