CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3

General Information (adopted from Orphanet):

Synonyms, Signs: CDCBM3
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615411
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:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0002510) Spastic tetraplegia 54 / 7739
6
(HPO:0001511) Intrauterine growth retardation rare [HPO:skoehler] 358 / 7739
7
(HPO:0001339) Lissencephaly 30 / 7739
8
(OMIM) Malformations of cortical development 3 / 7739
9
(OMIM) Thick cortex 2 / 7739
10
(HPO:0002539) Cortical dysplasia 19 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(HPO:0001302) Pachygyria 60 / 7739
13
(OMIM) Subcortical band heterotopia 6 / 7739
14
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
15
(OMIM) Dysmorphic basal ganglia 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Poirier et al. (2013) reported 2 unrelated children with microcephaly (-4 SD and -2.5 SD, respectively), early-onset epilepsy, and various malformations of cortical development, including agyria, posterior or frontal pachygyria, subcortical band heterotopia, and thin corpus callosum. One ...
Molecular genetics OMIM In 2 unrelated patients with complex cortical dysplasia and microcephaly, Poirier et al. (2013) identified different de novo heterozygous mutations in the KIF2A gene (H321D, 602591.0001 and S317N, 602591.0002). The first mutation was found by whole-exome sequencing and ...