Genopathy
Gene-Disorder Association · Article
Gene
CPAT1
Cerebral Palsy, Ataxic 1
Disorder
Cerebral Palsy, Ataxic, Autosomal Recessive
First reported 1952
Key publication · disorder Hypotonic cerebral palsy in mental defectives.Pediatrics · 1952
Manually curated
Association Review

In brief

The association between CPAT1 (Cerebral Palsy, Ataxic 1) and Cerebral Palsy, Ataxic, Autosomal Recessive is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 9
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
Cerebral Palsy, Ataxic, Autosomal Recessive

The disorder

7 database identifiers

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

Request access
04
Phenotype

Clinical features

7 clinical features

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

Request access
05
Provenance

References & sources

3 references

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

Request access