49,XYYYY syndrome

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 28137251
(5282903)
 Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M.
BMC Med Genet. 2017;18(1):9.
Autism
Adult Autism Spectrum Disorders Chromosomes, Human, Y Homo sapiens Male Phenotype Tetrasomy Turner Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 43

HPO ID Term Frequency
HP:0000026 Male hypogonadism Very frequent (99-80%)
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000119 Abnormality of the genitourinary system Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000744 Low frustration tolerance Very frequent (99-80%)
HP:0000750 Delayed speech and language development Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0000837 Increased circulating gonadotropin level Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001999 Abnormal facial shape Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002500 Abnormality of the cerebral white matter Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002788 Recurrent upper respiratory tract infections Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003241 External genital hypoplasia Very frequent (99-80%)
HP:0003782 Eunuchoid habitus Very frequent (99-80%)
HP:0003946 Abnormality of the epiphyses of the elbow Very frequent (99-80%)
HP:0004237 Large carpal bones Very frequent (99-80%)
HP:0008193 Primary gonadal insufficiency Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0009237 Short 5th finger Very frequent (99-80%)
HP:0011310 Bridged palmar crease Very frequent (99-80%)
HP:0011343 Moderate global developmental delay Very frequent (99-80%)
HP:0040019 Finger clinodactyly Very frequent (99-80%)
HP:0040171 Decreased serum testosterone level Very frequent (99-80%)
HP:0045058 Abnormality of the testis size Very frequent (99-80%)
HP:0100710 Impulsivity Very frequent (99-80%)
HP:0000243 Trigonocephaly Occasional (29-5%)
HP:0000262 Turricephaly Occasional (29-5%)
HP:0000394 Lop ear Occasional (29-5%)
HP:0000519 Developmental cataract Occasional (29-5%)
HP:0001176 Large hands Occasional (29-5%)
HP:0002761 Generalized joint laxity Occasional (29-5%)
HP:0100559 Lower limb asymmetry Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID