anencephaly 2
MONDO:0030338Mondo
Findings
No curated finding names anencephaly 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
7 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
- 3 of 3 reported patients
- AnophthalmiaHPOHP:0000528
- 1 of 2 reported patients
- Bifid noseHPOHP:0011803
- 1 of 2 reported patients
- Cleft maxillary alveolar ridgeHPOHP:0010289
- 1 of 2 reported patients
- Median cleft palateHPOHP:0009099
- 1 of 2 reported patients
- Median cleft upper lipHPOHP:0000161
- 1 of 2 reported patients
- Short palpebral fissureHPOHP:0012745
- 1 of 2 reported patients
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.
- NUAK2HGNC:29558
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: anencephaly 2
- Also called
- ANPH2