48,XXXY syndrome

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 19817277
 Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes.
Simsek PO, Utine GE, Alikasifoglu A, Alanay Y, Boduroglu K, Kandemir N.
Turk J Pediatr. 2009;51(3):294-7.
Micropenis
Aneuploidy Homo sapiens Infant Klinefelter Syndrome Male Rare Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 62

HPO ID Term Frequency
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000789 Infertility Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002463 Language impairment Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000046 Scrotal hypoplasia Frequent (79-30%)
HP:0000098 Tall stature Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000389 Chronic otitis media Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000670 Carious teeth Frequent (79-30%)
HP:0000679 Taurodontia Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0000684 Delayed eruption of teeth Frequent (79-30%)
HP:0000717 Autism Frequent (79-30%)
HP:0000771 Gynecomastia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001763 Pes planus Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002099 Asthma Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002974 Radioulnar synostosis Frequent (79-30%)
HP:0003042 Elbow dislocation Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0005930 Abnormality of epiphysis morphology Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0008736 Hypoplasia of penis Frequent (79-30%)
HP:0010807 Open bite Frequent (79-30%)
HP:0200021 Down-sloping shoulders Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000110 Renal dysplasia Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000248 Brachycephaly Occasional (29-5%)
HP:0000303 Mandibular prognathia Occasional (29-5%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000581 Blepharophimosis Occasional (29-5%)
HP:0000737 Irritability Occasional (29-5%)
HP:0000739 Anxiety Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0002020 Gastroesophageal reflux Occasional (29-5%)
HP:0002204 Pulmonary embolism Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002673 Coxa valga Occasional (29-5%)
HP:0002827 Hip dislocation Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0005978 Type II diabetes mellitus Occasional (29-5%)
HP:0006919 Abnormal aggressive, impulsive or violent behavior Occasional (29-5%)
HP:0012433 Abnormal social behavior Occasional (29-5%)
HP:0100753 Schizophrenia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0001511 Intrauterine growth retardation 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID