Log In|Sign Up
ENChromosome 15q11-Q13 Duplication Syndrome
Alias:
15q11q13 Microduplication Syndrome
Duplication 15q11-Q13 Syndrome
Isodicentric Chromosome 15 Syndrome
15q11-Q13 Duplication Syndrome
15q11q13 Duplication Syndrome
Duplication/inversion 15q11
Isodicentric Chromosome 15
Non-Distal Tetrasomy 15q
Autism Susceptibility 4
Inverted Duplication 15
Trisomy 15q11q13
Dup15q Syndrome
Dup(15)(q11q13)
Inv Dup(15)
Idic(15)
Favorite
Chromosome 15q11-Q13 Duplication Syndrome, also known as 15q11q13 microduplication syndrome, is related to prader-willi syndrome and angelman syndrome. An important gene associated with Chromosome 15q11-Q13 Duplication Syndrome is UBE3A (Ubiquitin Protein Ligase E3A). The drugs Fenfluramine and Stiripentol have been mentioned in the context of this disorder. Affiliated tissues include testes and skin, and related phenotypes are intellectual disability and hypotonia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
