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Article

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

Journal of medical case reports - 5 Nov 2015

Chafai-Elalaoui Siham, Chalon Matthias, Elkhartoufi Nadia, Kriouele Yamna, Mansouri Maria, Attié-Bitach Tania, Sefiani Abdelaziz, Baala Lekbir

Abstract excerpt

INTRODUCTION: Joubert syndrome is a rare congenital disorder characterized by brain malformation, developmental delay with hypotonia, ocular motor apraxia, and breathing abnormalities. Joubert syndrome is a genetically highly heterogeneous ciliopathy disorder with 23 identified causative genes. The diagnosis is based on brain imaging showing the "molar tooth sign" with cerebellar vermis agenesis. We describe a...

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Identifiers

PMID: 26541515
DOI: 10.1186/s13256-015-0732-3
PMCID: PMC4635607

Genes

AHI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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