Genopathy
Gene-Disorder Association · Article
Gene
KIF5C
Kinesin Family Member 5C
Disorder
Cortical Dysplasia, Complex, With Other Brain Malformations 14a
First reported 1990
Key publication · disorder Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings.Neuropediatrics · 1990
Manually curated
Association Review

In brief

The association between KIF5C (Kinesin Family Member 5C) and Cortical Dysplasia, Complex, With Other Brain Malformations 14a is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 63
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
KIF5C

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Cortical Dysplasia, Complex, With Other Brain Malformations 14a

The disorder

12 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

37 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

7 references

Every source and publication cited across this dossier, as one numbered reference list.

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