Xq25 microduplication syndrome




Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 24733578
 Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M.
Am J Med Genet A. 2014;164A(8):1923-30.
Intellectual disability
GRIA3 STAG2 THOC2 XIAP
rs1556553319 rs1556571924
Adult Antigens, Nuclear Brain Cell Cycle Proteins Child Child, Preschool Chromosomal Duplication Chromosome Breakpoints Chromosome Mapping Chromosomes, Human, X Exons Facies Females Genetic Association Studies Homo sapiens Magnetic Resonance Imaging Male Middle Aged Phenotype Sex Chromosome Aberrations Syndrome Trisomy X-Linked Inhibitor of Apoptosis Protein Young Adult
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000297 Facial hypotonia Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000729 Autistic behavior Frequent (79-30%)
HP:0000739 Anxiety Frequent (79-30%)
HP:0000752 Hyperactivity Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001321 Cerebellar hypoplasia Frequent (79-30%)
HP:0002079 Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0008050 Abnormality of the palpebral fissures Frequent (79-30%)
HP:0009088 Speech articulation difficulties Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)
HP:0045075 Sparse eyebrow Frequent (79-30%)
HP:0004322 Short stature Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
STAG2 stromal antigen 2 10735