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Article

Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.

Oral surgery, oral medicine, oral pathology and oral radiology - 1 Nov 2015

Purwar Parth, Sareen Sagar, Bhartiya Kishlay, Sayed Inayatullah Sayyed Rayyan, Bansal Mayank, Chahal Vikas, Gupta Sanjiv K, Dixit Jaya, Sheel Vaibhav, Rai Priya

Abstract excerpt

Jalili syndrome (JS) (MIM#217080) is a rare genetic disorder characterized by the comorbid appearance of cone-rod dystrophy (CORD) and amelogenesis imperfecta (AI). JS is an autosomal recessive inherited disorder caused by different mutations, all with a linkage at achromatopsia locus 2 q11 on the metal transporter gene CNNM4. The case report presented here describes JS with distinct phenotypic variations such as...

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Identifiers

PMID: 26117809
DOI: 10.1016/j.oooo.2015.04.002

Genes

CNNM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.PMID 26117809Read ↗

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Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.Semantic proximity Read ↗

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.Semantic proximity Read ↗

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.Semantic proximity Read ↗

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A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Semantic proximity Read ↗

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.Semantic proximity Read ↗

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.Semantic proximity Read ↗

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