Frontal encephalocele

General Information (adopted from Orphanet):

Synonyms, Signs: Anterior encephalocele
Number of Symptoms 11
OrphanetNr: 1931
OMIM Id:
ICD-10: Q01.0
UMLs:
MeSH:
MedDRA:
Snomed: 253103006

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated encephalocele
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001362) Calvarial skull defect Frequent [Orphanet] 22 / 7739
2
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
3
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
4
 (HPO:0000268) Dolichocephaly Occasional [Orphanet] 144 / 7739
5
 (HPO:0002084) Encephalocele Very frequent [Orphanet] 70 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
8
 (HPO:0002475) Myelomeningocele Frequent [Orphanet] 29 / 7739
9
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
10
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
11
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: