Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

General Information (adopted from Orphanet):

Synonyms, Signs: CDCBM1
Number of Symptoms 27
OrphanetNr: 300570
OMIM Id: 614039
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic cerebral malformation due to abnormal neuronal migration
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000486) Strabismus 576 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0000750) Delayed speech and language development 197 / 7739
6
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
7
 (HPO:0001257) Spasticity 251 / 7739
8
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
9
 (HPO:0001250) Seizures occasional [HPO:skoehler] 1245 / 7739
10
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
11
 (OMIM) Mental retardation, mild to severe 14 / 7739
12
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
13
 (HPO:0012650) Perisylvian polymicrogyria 2 / 7739
14
 (OMIM) Dysmorphic basal ganglia 4 / 7739
15
 (HPO:0007095) Frontoparietal polymicrogyria 4 / 7739
16
 (OMIM) Gyral disorganization 2 / 7739
17
 (HPO:0002126) Polymicrogyria 64 / 7739
18
 (OMIM) Defect in axonal guidance 1 / 7739
19
 (OMIM) Neuronal migration defect 4 / 7739
20
 (OMIM) Fusion of the basal ganglia 1 / 7739
21
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
22
 (OMIM) Gyral simplification 1 / 7739
23
 (HPO:0002539) Cortical dysplasia 19 / 7739
24
 (OMIM) Misorientation of pyramidal fibers 1 / 7739
25
 (OMIM) Cortical dysgenesis, complex 1 / 7739
26
 (OMIM) Dysplastic cerebellar vermis 1 / 7739
27
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of ...
Clinical Description OMIM Poirier et al. (2010) reported 9 patients from 7 families with mild to severe mental retardation associated with variable degrees of complex cortical dysplasia and other brain malformations. All except 1 had axial hypotonia, and 3 had spastic ...
Molecular genetics OMIM In affected members of 7 unrelated families with complex cortical dysplasia and other brain malformations, Poirier et al. (2010) identified 6 different heterozygous missense mutations in the TUBB3 gene (see, e.g., 602661.0006-602661.0009). In vitro functional expression studies showed ...