Chromosome 3pter-P25 Deletion Syndrome

Alias:
3p- Syndrome
3p Deletion Syndrome
Distal Monosomy 3p
Chromosome 3, Monosomy 3p
Telomeric Monosomy 3p
Monosomy 3pter
Chromosome Deletion Syndrome 3pter-P25
Chromosome 3p Deletion Syndrome
3p Partial Monosomy Syndrome
Chromosome 3, Deletion 3p
Partial Monosomy 3p
Distal 3p Deletion
Distal Deletion 3p
Del Syndrome
Deletion 3p
Monosomy 3p
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 3pter-P25 Deletion Syndrome, also known as 3p- syndrome, is related to intellectual developmental disorder with dysmorphic facies and ptosis and wolf-hirschhorn syndrome, and has symptoms including muscle spasticity An important gene associated with Chromosome 3pter-P25 Deletion Syndrome is DEL3PTERP25 (3p- Syndrome), and among its related pathways/superpathways are Post-translational modification: synthesis of GPI-anchored proteins and Signaling by Slit. Affiliated tissues include heart and eye, and related phenotypes are ptosis and hypertelorism

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
12
63
21

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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