CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2

General Information (adopted from Orphanet):

Synonyms, Signs: CDCBM2
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615282
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0002510) Spastic tetraplegia 54 / 7739
4
(HPO:0001344) Absent speech 57 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
7
(HPO:0002753) Thin bony cortex 16 / 7739
8
(HPO:0001989) Fetal akinesia sequence 14 / 7739
9
(HPO:0001511) Intrauterine growth retardation 358 / 7739
10
(OMIM) Thin corpus callosum Gyral simplification 1 / 7739
11
(HPO:0002539) Cortical dysplasia 19 / 7739
12
(OMIM) Delayed brainstem development (in some patients) 1 / 7739
13
(OMIM) Delayed cerebellar development (in some patients) 1 / 7739
14
(HPO:0003577) Congenital onset 133 / 7739
15
(HPO:0002126) Polymicrogyria 64 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(OMIM) Malformations of cortical development 3 / 7739
18
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Poirier et al. (2013) reported 4 brothers with severe malformations of cortical development. The proband showed intrauterine growth retardation, severe arthrogryposis, and microcephaly (-4 SD) at birth, and developed clonic seizures in the first months of life. Brain ...
Molecular genetics OMIM In 4 brothers with complex cortical dysplasia with other brain malformations-2, Poirier et al. (2013) identified a heterozygous mutation in the KIF5C gene (E237V; 604593.0001). The mutation was identified by whole-exome sequencing and was not found in several ...