anauxetic dysplasia 3
MONDO:0030019Mondo
Findings
No curated finding names anauxetic dysplasia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
35 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.
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Broad eyebrowHPOHP:0011229
- 3 of 3 reported patients
- Broad middle phalanx of fingerHPOHP:0009844
- 5 of 5 reported patients
- Cutis laxaHPOHP:0000973
- 5 of 5 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- High anterior hairlineHPOHP:0009890
- 3 of 3 reported patients
- Joint hypermobilityHPOHP:0001382
- 5 of 5 reported patients
- Metaphyseal cuppingHPOHP:0003021
- 4 of 4 reported patients
- Pectus excavatumHPOHP:0000767
- 3 of 3 reported patients
- PlagiocephalyHPOHP:0001357
- 2 of 2 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Severe short statureHPOHP:0003510
- 5 of 5 reported patients
Show the remaining 23
- Short metacarpalHPOHP:0010049
- 5 of 5 reported patients
- Short middle phalanx of fingerHPOHP:0005819
- 5 of 5 reported patients
- Small nailHPOHP:0001792
- 1 of 1 reported patient
- Sparse scalp hairHPOHP:0002209
- 3 of 3 reported patients
- Thoracolumbar kyphoscoliosisHPOHP:0003423
- 2 of 2 reported patients
- Trident handHPOHP:0004060
- 3 of 3 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.
- RMP64HGNC:24496
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: anauxetic dysplasia 3
- Also called
- ANXD3