Norrie disease
Findings
No curated finding names Norrie disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.
Definition from the Mondo Disease Ontology (MONDO:0010691), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
68 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.
- Corneal opacityHPOHP:0007957
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Retinal detachmentHPOHP:0000541
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Shallow anterior chamberHPOHP:0000594
- 2 of 2 reported patients
- Abnormal chorioretinal morphologyHPOHP:0000532
- Very frequent (80% to 99% of cases)
- Abnormal retinal vascular morphologyHPOHP:0008046
- Very frequent (80% to 99% of cases)
- Anterior chamber synechiaeHPOHP:0007833
- Very frequent (80% to 99% of cases)
Show the remaining 56
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Narrow nasal bridgeHPOHP:0000446
- Very frequent (80% to 99% of cases)
- Neoplasm of the eyeHPOHP:0100012
- Very frequent (80% to 99% of cases)
- SclerocorneaHPOHP:0000647
- Very frequent (80% to 99% of cases)
- Vascular neoplasmHPOHP:0100742
- Very frequent (80% to 99% of cases)
- Abnormal cochlea morphologyHPOHP:0000375
- Frequent (30% to 79% of cases)
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.
- NDPHGNC:7678
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2025
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
4 names
Resolves to: Norrie disease
- Also called
- atrophia bulborum hereditariaEpiskopi blindnessNorrie disease, X-linked recessiveNorrie-Warburg disease