anencephaly 1
Findings
No curated finding names anencephaly 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
Definition from the Mondo Disease Ontology (MONDO:0008791), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnencephalyHPOHP:0002323
- 1 of 1 reported patient · Congenital onset
- Very frequent (80% to 99% of cases)
- Spina bifidaHPOHP:0002414
- 1 of 1 reported patient
- Primary adrenal insufficiencyHPOHP:0008207
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRIM36HGNC:16280
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
1 name
Resolves to: anencephaly 1
- Also called
- isolated anencephaly/exencephaly