spondyloepiphyseal dysplasia, kondo-fu type
MONDO:0032721Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia, kondo-fu 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
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.
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient · Infantile onset
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Delayed ossification of carpal bonesHPOHP:0001216
- 1 of 1 reported patient
- Elevated circulating beta-glucuronidase activityHPOHP:6000819
- 1 of 1 reported patient
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
- MacrotiaHPOHP:0000400
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 1 of 1 reported patient
- Posteriorly rotated earsHPOHP:0000358
- 1 of 1 reported patient
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
Show the remaining 6
- Reduced bone mineral densityHPOHP:0004349
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient · Congenital onset
- Spondyloepiphyseal dysplasiaHPOHP:0002655
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 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.
- MBTPS1HGNC:15456
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · Illumina · Autosomal recessive · 2020
Where it sits
- A kind of