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GTR Home > Conditions/Phenotypes > Jalili syndrome

Jalili syndrome

Synonyms
CONE-ROD DYSTROPHY AND AMELOGENESIS IMPERFECTA; Cone-rod dystrophy amelogenesis imperfecta; Cone-rod dystrophy with amelogenesis imperfecta
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACDP4, CNNM4
    Summary: cyclin and CBS domain divalent metal cation transport mediator 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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