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Article

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Journal of medical genetics - 1 Jun 2003

Philip N, Chabrol B, Lossi A-M, Cardoso C, Guerrini R, Dobyns W B, Raybaud C, Villard L

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Share to Cerebellum
Share to Chromosomes, Human, X
Share to Cytoskeletal Proteins
Share to Dosage Compensation, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTPase-Activating Proteins

Share to Intellectual Disability

Share to Magnetic Resonance Imaging

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Source

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Identifiers

PMID: 12807966
DOI: 10.1136/jmg.40.6.441
PMCID: PMC1735502

Genes

OPHN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.PMID 12807966Read ↗

Novel unconventional variants expand the allelic spectrum of OPHN1 gene.Semantic proximity Read ↗

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.Semantic proximity Read ↗

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearanceSemantic proximity Read ↗

Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation.Semantic proximity Read ↗

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Semantic proximity Read ↗

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.Semantic proximity Read ↗

[X-linked mental retardation].Semantic proximity Read ↗

Comprehensive Structural MRI Phenotyping in Oligophrenin 1-Related Disorder Reveals Characteristic Brain Malformations.Semantic proximity Read ↗

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.Semantic proximity Read ↗

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.Semantic proximity Read ↗

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.Semantic proximity Read ↗

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability SyndromeSemantic proximity Read ↗

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