short-rib thoracic dysplasia 20 with polydactyly
MONDO:0044328Mondo
Findings
No curated finding names short-rib thoracic dysplasia 20 with polydactyly 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
- Neonatal death
HPO, annotations 2026-09-02
Features
33 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.
- Anal atresiaHPOHP:0002023
- 2 of 2 reported patients · Congenital onset
- Cleft lipHPOHP:0410030
- 2 of 2 reported patients · Congenital onset
- Decreased calvarial ossificationHPOHP:0005474
- 2 of 2 reported patients · Congenital onset
- Fibular hypoplasiaHPOHP:0003038
- 2 of 2 reported patients · Congenital onset
- Hamartoma of tongueHPOHP:0011802
- 2 of 2 reported patients · Congenital onset
- Hypoplastic pubic boneHPOHP:0003173
- 2 of 2 reported patients · Congenital onset
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients · Congenital onset
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient · Congenital onset
- MicropenisHPOHP:0000054
- 1 of 1 reported patient · Congenital onset · Male
- Postaxial polydactylyHPOHP:0100259
- 2 of 2 reported patients · Congenital onset
- Preaxial polydactylyHPOHP:0100258
- 2 of 2 reported patients · Congenital onset
- Short neckHPOHP:0000470
- 2 of 2 reported patients · Congenital onset
Show the remaining 21
- Short tibiaHPOHP:0005736
- 2 of 2 reported patients · Congenital onset
- Uterus didelphysHPOHP:0003762
- 1 of 1 reported patient · Congenital onset · Female
- Wide anterior fontanelHPOHP:0000260
- 2 of 2 reported patients · Congenital onset
- Complete atrioventricular canal defectHPOHP:0001674
- 1 of 2 reported patients · Congenital onset
- Natal toothHPOHP:0000695
- 1 of 2 reported patients · Congenital onset
- Septate vaginaHPOHP:0001153
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.
- INTUHGNC:29239
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018