short stature, oligodontia, dysmorphic facies, and motor delay
MONDO:0030992Mondo
Findings
No curated finding names short stature, oligodontia, dysmorphic facies, and motor delay 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
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.
- Growth delayHPOHP:0001510
- 3 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- OligodontiaHPOHP:0000677
- 3 of 3 reported patients
- Talipes equinovarusHPOHP:0001762
- 3 of 3 reported patients
- Toe syndactylyHPOHP:0001770
- 3 of 3 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 2 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 2 of 3 reported patients
- FatigueHPOHP:0012378
- 2 of 3 reported patients
- HypothyroidismHPOHP:0000821
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Long halluxHPOHP:0001847
- 2 of 3 reported patients
Show the remaining 21
- Lumbar kyphosisHPOHP:0008454
- 2 of 3 reported patients
- Motor regressionHPOHP:0033044
- 2 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 3 reported patients
- Smooth philtrumHPOHP:0000319
- 2 of 3 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 3 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 3 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.
- POLR3GLHGNC:28466
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: short stature, oligodontia, dysmorphic facies, and motor delay
- Also called
- SOFM