Jalili syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA
Cone rod dystrophy - amelogenesis imperfecta
Number of Symptoms 18
OrphanetNr: 1873
OMIM Id: 217080
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 49 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
2
 (HPO:0000670) Carious teeth 145 / 7739
3
 (HPO:0000705) Amelogenesis imperfecta 25 / 7739
4
 (HPO:0011073) Abnormality of dental color Very frequent [Orphanet] 24 / 7739
5
 (HPO:0000642) Red-green dyschromatopsia Very frequent [Orphanet] 25 / 7739
6
 (HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
7
 (HPO:0007803) Monochromacy 3 / 7739
8
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
9
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
10
 (HPO:0000613) Photophobia Very frequent [Orphanet] 158 / 7739
11
 (HPO:0000543) Optic disc pallor 67 / 7739
12
 (HPO:0000662) Nyctalopia 92 / 7739
13
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
14
 (OMIM) Dark brown discoloration 1 / 7739
15
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
16
 (OMIM) Progressive central vision toss 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Bull's eye macular lesion 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In an inbred, extensive Arab family from the Gaza strip, Jalili and Smith (1988) described 29 persons with a combination of cone-rod dystrophy of the retina and amelogenesis imperfecta. The inheritance was clearly autosomal recessive. There was at ...
Molecular genetics OMIM In a family from Kosovo in which 2 sibs had cone-rod dystrophy and amelogenesis imperfecta, Polok et al. (2009) identified homozygosity for a 1-bp duplication in the CNNM4 gene (607805.0001) in both affected individuals. Sequence analysis of a ...