solitary median maxillary central incisor syndrome
MONDO:0007819Mondo
Findings
No curated finding names solitary median maxillary central incisor syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
16 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.
- Prominent median palatal rapheHPOHP:0002708
- 14 of 14 reported patients
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 5 of 7 reported patients
- Midnasal stenosisHPOHP:0010644
- 9 of 14 reported patients
- Choanal atresiaHPOHP:0000453
- 8 of 14 reported patients
- HypotelorismHPOHP:0000601
- 8 of 14 reported patients
- Short statureHPOHP:0004322
- 7 of 14 reported patients
- AnophthalmiaHPOHP:0000528
- Occasional (5% to 29% of cases)
- Anterior hypopituitarismHPOHP:0000830
- Occasional (5% to 29% of cases)
- ColobomaHPOHP:0000589
- Occasional (5% to 29% of cases)
- CyclopiaHPOHP:0009914
- Occasional (5% to 29% of cases)
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases)
- Specific learning disabilityHPOHP:0001328
- 5 of 14 reported patients
Show the remaining 4
- Mild intellectual disabilityHPOHP:0001256
- 3 of 14 reported patients
- Abnormality of chromosome segregationHPOHP:0002916
- 2 of 14 reported patients
- Abnormal nasopharynx morphologyHPOHP:0001739
- 1 of 14 reported patients
- Cleft upper lipHPOHP:0000204
- 1 of 14 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.
- SHHHGNC:10848
- Definitive · G2P · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: solitary median maxillary central incisor syndrome
- Also called
- single median maxillary central incisorsingle upper central incisorSMMCI