Bilateral frontal polymicrogyria

General Information (adopted from Orphanet):

Synonyms, Signs: PMGYSA
Number of Symptoms 27
OrphanetNr: 208444
OMIM Id: 610031
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0002307) Drooling 43 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0007941) Limited extraocular movements rare [HPO:skoehler] 7 / 7739
4
 (HPO:0001491) Congenital fibrosis of extraocular muscles rare [HPO:skoehler] 9 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0001328) Specific learning disability 114 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0001270) Motor delay 322 / 7739
10
 (HPO:0001269) Hemiparesis 51 / 7739
11
 (HPO:0001302) Pachygyria 60 / 7739
12
 (OMIM) Frontotemporoparietal cortical dysplasia 2 / 7739
13
 (HPO:0006927) Unilateral polymicrogyria 1 / 7739
14
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
15
 (OMIM) Neuronal migration defect 4 / 7739
16
 (OMIM) Malformations of cortical development, variable 2 / 7739
17
 (OMIM) Brainstem abnormalities 3 / 7739
18
 (OMIM) Irregular folding of the cortex 2 / 7739
19
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
20
 (OMIM) Contralateral hemiparesis, congenital 2 / 7739
21
 (HPO:0006930) Frontoparietal cortical dysplasia 1 / 7739
22
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Polymicrogyria, asymmetric or symmetric 2 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Oromotor dyspraxia 2 / 7739
27
 (OMIM) Contralateral hemianopsia (1 family) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Polymicrogyria is a malformation of cortical development characterized by an excessive number of small gyri with abnormal lamination (Chang et al., 2006).

See 606854 for a description of hereditary bilateral frontoparietal polymicrogyria (BFPP).
Clinical Description OMIM Caraballo et al. (2000) reported a mother and son with unilateral right focal polymicrogyria. Both had cognitive impairment (IQ of 85 and 80, respectively) and congenital contralateral hemiparesis. The son also had focal seizures. Brain imaging of both ...
Molecular genetics OMIM In 4 unrelated patients and a fetus with asymmetric polymicrogyria, Jaglin et al. (2009) identified 5 different heterozygous mutations in the TUBB2B gene (see, e.g., 612850.0001-612850.0003). In vitro studies of some of the mutant proteins showed impaired formation ...