Hypogonadism-mitral valve prolapse-intellectual disability syndrome

This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.



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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: 15

HPO ID Term Frequency
HP:0000035 Abnormal testis morphology Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000144 Decreased fertility Very frequent (99-80%)
HP:0000218 High palate Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002997 Abnormality of the ulna Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0011362 Abnormal hair quantity Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001634 Mitral valve prolapse Frequent (79-30%)


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