Genopathy
Gene-Disorder Association · Article
Gene
CCCSX
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Disorder
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
First reported 1991
Key publication · disorder Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.American journal of medical genetics · 1991
Manually curated
Association Review

In brief

The association between CCCSX (Cerebral-Cerebellar-Coloboma Syndrome, X-Linked) and Cerebral-Cerebellar-Coloboma Syndrome, X-Linked is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 44
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
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

The disorder

6 database identifiers

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

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04
Phenotype

Clinical features

31 clinical features

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

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05
Provenance

References & sources

4 references

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

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