anauxetic dysplasia 2
MONDO:0054561Mondo
Findings
No curated finding names anauxetic dysplasia 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
6 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.
- Cervical spine instabilityHPOHP:0010646
- 2 of 2 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- J-shaped sella turcicaHPOHP:0002680
- 1 of 1 reported patient
- Metaphyseal dysplasiaHPOHP:0100255
- 2 of 2 reported patients
- Ovoid vertebral bodiesHPOHP:0003300
- 1 of 1 reported patient
- Posterior wedging of vertebral bodiesHPOHP:0008444
- 1 of 1 reported patient
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.
- POP1HGNC:30129
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of