short-rib thoracic dysplasia 13 with or without polydactyly
Findings
No curated finding names short-rib thoracic dysplasia 13 with or without polydactyly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
Definition from the Mondo Disease Ontology (MONDO:0014577), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Stillbirth
HPO, annotations 2026-09-02
Features
18 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.
- Horizontal ribsHPOHP:0000888
- 2 of 2 reported patients
- Narrow chestHPOHP:0000774
- 2 of 2 reported patients
- Preaxial polydactylyHPOHP:0100258
- 2 of 2 reported patients
- Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Short ribsHPOHP:0000773
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 2 reported patients
- Dandy-Walker malformationHPOHP:0001305
Show the remaining 6
- Lobulated tongueHPOHP:0000180
- 1 of 2 reported patients
- Narrow greater sciatic notchHPOHP:0003375
- 1 of 2 reported patients
- OmphaloceleHPOHP:0001539
- 1 of 2 reported patients
- Relative macrocephalyHPOHP:0004482
- 1 of 2 reported patients
- Short tibiaHPOHP:0005736
- 1 of 2 reported patients
- Sparse eyebrowHPOHP:0045075
- 1 of 2 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.
- CEP120HGNC:26690
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: short-rib thoracic dysplasia 13 with or without polydactyly
- Also called
- SRTD13