Xq27.3q28 duplication syndrome

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000414 Bulbous nose Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001620 High pitched voice Very frequent (99-80%)
HP:0001773 Short foot Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000771 Gynecomastia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001956 Truncal obesity Frequent (79-30%)
HP:0002231 Sparse body hair Frequent (79-30%)
HP:0002750 Delayed skeletal maturation Frequent (79-30%)
HP:0100805 obsolete Precocious menopause 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
FMR1 fragile X mental retardation 1 2332