Chromosome 2p16.1-P15 Deletion Syndrome

Alias:
2p15p16.1 Microdeletion Syndrome
Monosomy 2p15p16.1
Del(2)(p15p16.1)
2p15-P16.1 Microdeletion Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 2p16.1-P15 Deletion Syndrome, also known as 2p15p16.1 microdeletion syndrome, is related to intellectual developmental disorder with persistence of fetal hemoglobin and bcl11a-related intellectual disability. An important gene associated with Chromosome 2p16.1-P15 Deletion Syndrome is DEL2P16.1-P15 (Chromosome 2p16.1-P15 Deletion Syndrome), and among its related pathways/superpathways is Olfactory Signaling Pathway. Affiliated tissues include brain and pons, and related phenotypes are ptosis and high palate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
17
75
11

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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