Iniencephaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 63259
OMIM Id:
ICD-10: Q00.2
UMLs: C0152234
MeSH:
MedDRA: 10022034
Snomed: 2438005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neural tube closure defect
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
2
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
3
 (HPO:0002084) Encephalocele Frequent [Orphanet] 70 / 7739
4
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
5
 (HPO:0002414) Spina bifida Frequent [Orphanet] 47 / 7739
6
 (HPO:0002475) Myelomeningocele Very frequent [Orphanet] 29 / 7739
7
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
8
 (HPO:0001838) Rocker bottom foot Frequent [Orphanet] 85 / 7739
9
 (HPO:0002803) Congenital contracture Frequent [Orphanet] 45 / 7739
10
 (HPO:0001561) Polyhydramnios Frequent [Orphanet] 191 / 7739
11
 (HPO:0001543) Gastroschisis Frequent [Orphanet] 11 / 7739
12
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
13
 (HPO:0001539) Omphalocele Frequent [Orphanet] 102 / 7739
14
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
15
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
16
 (HPO:0002323) Anencephaly Frequent [Orphanet] 28 / 7739
17
 (HPO:0012443) Abnormality of brain morphology Frequent [Orphanet] 45 / 7739
18
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: