Bilateral generalized polymicrogyria

General Information (adopted from Orphanet):

Synonyms, Signs: PMGYS
Number of Symptoms 19
OrphanetNr: 208447
OMIM Id: 614833
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive 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:0000252) Microcephaly 832 / 7739
2
(HPO:0002342) Intellectual disability, moderate 37 / 7739
3
(HPO:0002465) Poor speech 31 / 7739
4
(HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
5
(HPO:0002353) EEG abnormality 188 / 7739
6
(HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
7
(HPO:0001260) Dysarthria 329 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0003502) Mild short stature 19 / 7739
10
(OMIM) Polymicrogyria, diffuse, asymmetric 1 / 7739
11
(OMIM) Cerebellar atrophy, mild 4 / 7739
12
(HPO:0001273) Abnormality of the corpus callosum 20 / 7739
13
(OMIM) Microcephaly, mild 4 / 7739
14
(OMIM) Decreased kidney volume (1 patient) 1 / 7739
15
(OMIM) Situs solitus 1 / 7739
16
(OMIM) Lack of speech or poor speech 2 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Mental retardation, moderate to severe 20 / 7739
19
(HPO:0002126) Polymicrogyria 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kheradmand Kia et al. (2012) reported a consanguineous Turkish family in which 2 sibs were demonstrated to have diffuse asymmetric polymicrogyria extending from the frontal to the temporal, parietal, and occipitals lobes on brain MRI. Other imaging findings ...
Molecular genetics OMIM In 3 members of a consanguineous Turkish family with polymicrogyria with seizures, Kheradmand Kia et al. (2012) identified a homozygous mutation in the RTTN gene (L932F; 610436.0001). The mutation was identified by autozygosity mapping followed by candidate gene ...