complex lethal osteochondrodysplasia
MONDO:0014821Mondo
Findings
No curated finding names complex lethal osteochondrodysplasia 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
41 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.
- Multiple rib fracturesHPOHP:0006640
- 20 of 20 reported patients
- Adducted thumbHPOHP:0001181
- Anteverted naresHPOHP:0000463
- AscitesHPOHP:0001541
- BrachycephalyHPOHP:0000248
- CardiomegalyHPOHP:0001640
- Cerebellar hypoplasiaHPOHP:0001321
- Decreased skull ossificationHPOHP:0004331
- Flared metaphysisHPOHP:0003015
- Flat faceHPOHP:0012368
- Flexion contractureHPOHP:0001371
- Fractured radiusHPOHP:0003978
Show the remaining 29
- HydronephrosisHPOHP:0000126
- HypertelorismHPOHP:0000316
- HypospadiasHPOHP:0000047
- Intrauterine growth retardationHPOHP:0001511
- Limb undergrowthHPOHP:0009826
- Low-set earsHPOHP:0000369
- MicrocephalyHPOHP:0000252
- MicrognathiaHPOHP:0000347
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.
- TAPT1HGNC:26887
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2016
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: complex lethal osteochondrodysplasia
- Also called
- Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type