Schisis association

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 63862
OMIM Id:
ICD-10: Q87.8
UMLs: C2931271
MeSH: C536633
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
2
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
3
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0002084) Encephalocele Frequent [Orphanet] 70 / 7739
6
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
7
 (HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
8
 (HPO:0001539) Omphalocele Very frequent [Orphanet] 102 / 7739
9
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
10
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
11
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
12
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
13
 (HPO:0002323) Anencephaly Very frequent [Orphanet] 28 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: