CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615771
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
3
 (HPO:0007973) Retinal dysplasia rare [HPO:skoehler] 27 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0000750) Delayed speech and language development 197 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0002126) Polymicrogyria rare [HPO:skoehler] 64 / 7739
8
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
9
 (HPO:0002539) Cortical dysplasia rare [HPO:skoehler] 19 / 7739
10
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: