Neural tube closure defect

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 268357
OMIM Id: 182940
301410
601634
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: Neural tube defect
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0008482) Asymmetry of spinal facet joints 2 / 7739
3
 (HPO:0002475) Myelomeningocele 29 / 7739
4
 (HPO:0003298) Spina bifida occulta 67 / 7739
5
 (HPO:0001012) Multiple lipomas 43 / 7739
6
 (HPO:0000238) Hydrocephalus 278 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (HPO:0002323) Anencephaly 28 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: