CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615763
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002521) Hypsarrhythmia rare [HPO:skoehler] 43 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001252) Muscular hypotonia 990 / 7739
5
(HPO:0002365) Hypoplasia of the brainstem rare [HPO:skoehler] 41 / 7739
6
(HPO:0002119) Ventriculomegaly rare [HPO:skoehler] 253 / 7739
7
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
8
(HPO:0002539) Cortical dysplasia 19 / 7739
9
(HPO:0009879) Cortical gyral simplification rare [HPO:skoehler] 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: