CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4

General Information (adopted from Orphanet):

Synonyms, Signs: CDCBM4
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615412
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
3
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0002510) Spastic tetraplegia rare [HPO:skoehler] 54 / 7739
7
(OMIM) Malformations of cortical development 3 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Posterior pachygyria 1 / 7739
10
(OMIM) Subcortical band heterotopia 6 / 7739
11
(OMIM) Posterior agyria, 1 / 7739
12
(HPO:0002539) Cortical dysplasia 19 / 7739
13
(OMIM) Dysmorphic corpus callosum 1 / 7739
14
(OMIM) Thick cortex 2 / 7739
15
(HPO:0003828) Variable expressivity 130 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Poirier et al. (2013) reported 3 unrelated patients with complex cortical malformations. Two had a more severe disorder, with microcephaly (-5.5 SD and -4 SD, respectively), spastic tetraplegia, posterior agyria, frontal pachygyria, and a thick cortex. One had ...
Molecular genetics OMIM In 3 unrelated patients with complex cortical malformations, Poirier et al. (2013) identified heterozygous mutations in the TUBG1 gene (191135.0001-191135.0003). Two of the mutations were confirmed to be de novo, whereas DNA from the third patient's father was ...