rhizomelic dysplasia, Ain-Naz type
MONDO:0859203Mondo
Findings
No curated finding names rhizomelic dysplasia, Ain-Naz type 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 · Infantile onset
HPO, annotations 2026-09-02
Features
38 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.
- Aplasia of the femoral headHPOHP:0100862
- 1 of 1 reported patient
- Bowed forearm bonesHPOHP:0003956
- 1 of 1 reported patient
- Contracture of the proximal interphalangeal joint of the 5th fingerHPOHP:0009185
- 1 of 1 reported patient
- Distal humeral metaphyseal irregularityHPOHP:0003951
- 1 of 1 reported patient
- Enlarged jointsHPOHP:0003037
- 6 of 6 reported patients
- Flaring of rib cageHPOHP:0000904
- 1 of 1 reported patient
- Flat acetabular roofHPOHP:0003180
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Hallux valgusHPOHP:0001822
- 1 of 1 reported patient
- Hip dysplasiaHPOHP:0001385
- 2 of 2 reported patients
- Large handsHPOHP:0001176
- 5 of 5 reported patients
- Limitation of joint mobilityHPOHP:0001376
- 6 of 6 reported patients
Show the remaining 26
- Long footHPOHP:0001833
- 5 of 5 reported patients
- Lumbar hyperlordosisHPOHP:0002938
- 1 of 1 reported patient
- Overlapping toeHPOHP:0001845
- 1 of 1 reported patient
- Pectus excavatumHPOHP:0000767
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Posterior scalloping of vertebral bodiesHPOHP:0005121
- 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.
- GNPNAT1HGNC:19980
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of