Nance-Horan syndrome
Findings
No curated finding names Nance-Horan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0010545), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
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.
- Anteverted earsHPOHP:0040080
- 2 of 2 reported patients
- Dental malocclusionHPOHP:0000689
- 2 of 2 reported patients
- Mulberry molarHPOHP:0011092
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Narrow faceHPOHP:0000275
- 2 of 2 reported patients
- Nuclear cataractHPOHP:0100018
- 2 of 2 reported patients
- Prominent noseHPOHP:0000448
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 21
- NystagmusHPOHP:0000639
- 1 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Visual lossHPOHP:0000572
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Notched primary central incisorHPOHP:0012413
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.
- NHSHGNC:7820
- Definitive · ClinGen · X-linked · 2017
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: Nance-Horan syndrome
- Also called
- nance-horan syndrome, X-linked dominant