Jalili syndrome
Findings
No curated finding names Jalili syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
Definition from the Mondo Disease Ontology (MONDO:0009007), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
21 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.
- Enamel agenesisHPOHP:0033785
- 6 of 6 reported patients
- Visual impairmentHPOHP:0000505
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Yellow-brown discoloration of the teethHPOHP:0006286
- 6 of 6 reported patients
- Carious teethHPOHP:0000670
- 5 of 6 reported patients
- NystagmusHPOHP:0000639
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
- PhotophobiaHPOHP:0000613
- 5 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 6 reported patients
- Macular atrophyHPOHP:0007401
- 3 of 6 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 6 reported patients
- High hypermetropiaHPOHP:0008499
- 2 of 6 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 6 reported patients
- Pendular nystagmusHPOHP:0012043
- 2 of 6 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.
- CNNM4HGNC:105
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Jalili syndrome
- Also called
- cone rod dystrophy-amelogenesis imperfecta syndrome