Chromosome 18p Deletion Syndrome

Alias:
De Grouchy Syndrome
18p- Syndrome
Monosomy 18p
Deletion of Short Arm of Chromosome 18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 18p Deletion Syndrome, also known as de grouchy syndrome, is related to orofaciodigital syndrome viii and alobar holoprosencephaly. An important gene associated with Chromosome 18p Deletion Syndrome is DEL18P (Chromosome 18p Deletion Syndrome). Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and global developmental delay
Related ID:
MESH:C538309
ICD11:121037615

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/100000
11
65
9

Medical Symptom

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

Gene & Mutation

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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
Journal
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IF
No Data Found!
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