LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 616342
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:0000470) Short neck 345 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000293) Full cheeks 85 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
8
 (HPO:0001188) Hand clenching 9 / 7739
9
 (HPO:0001007) Hirsutism 91 / 7739
10
 (HPO:0001004) Lymphedema 62 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
12
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
13
 (HPO:0001339) Lissencephaly 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: