White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome

Alias:
Curatolo-Cilio-Pessagno Syndrome
Curatolo Cilio Pessagno Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome, also known as curatolo-cilio-pessagno syndrome, is related to white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrom. Affiliated tissues include cerebellum, and related phenotypes are intellectual disability and hyperreflexia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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