dysostosis multiplex, Ain-Naz type
MONDO:0859156Mondo
Findings
No curated finding names dysostosis multiplex, 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
- Infantile onset
HPO, annotations 2026-09-02
Features
14 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.
- Dysostosis multiplexHPOHP:0000943
- 3 of 3 reported patients
- Hypoplastic iliac wingHPOHP:0002866
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
- Severe short statureHPOHP:0003510
- 5 of 5 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Abdominal distentionHPOHP:0003270
- 5 of 6 reported patients
- Gait disturbanceHPOHP:0001288
- 5 of 6 reported patients
- Elongated femoral neckHPOHP:0033985
- 1 of 3 reported patients
- Flat acetabular roofHPOHP:0003180
- 1 of 3 reported patients
- Glenoid fossa hypoplasiaHPOHP:0006633
- 1 of 3 reported patients
- HemivertebraeHPOHP:0002937
- 1 of 3 reported patients
- Hip dislocationHPOHP:0002827
- 1 of 3 reported patients
Show the remaining 2
- Wide humerusHPOHP:0003886
- 1 of 3 reported patients
- Coarse facial featuresHPOHP:0000280
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.
- LYSETHGNC:20218
- Strong · G2P · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of