short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MONDO:0032703Mondo
Findings
No curated finding names short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 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
15 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.
- Amelogenesis imperfectaHPOHP:0000705
- 5 of 5 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 5 of 5 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Carious teethHPOHP:0000670
- 3 of 4 reported patients
- Inguinal herniaHPOHP:0000023
- 3 of 5 reported patients
- ScoliosisHPOHP:0002650
- 3 of 5 reported patients
- Coxa valgaHPOHP:0002673
- 1 of 2 reported patients
- Genu valgumHPOHP:0002857
- 2 of 5 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 5 reported patients
- Mandibular prognathiaHPOHP:0000303
- 1 of 4 reported patients
- Cleft palateHPOHP:0000175
- 1 of 5 reported patients
Show the remaining 3
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 5 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 1 of 5 reported patients
- Disproportionate short statureHPOHP:0003498
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.
- SLC10A7HGNC:23088
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019