Hydrocephalus-obesity-hypogonadism syndrome

This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, 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: 16

HPO ID Term Frequency
HP:0000238 Hydrocephalus Obligate (100%)
HP:0000470 Short neck Obligate (100%)
HP:0000771 Gynecomastia Obligate (100%)
HP:0000815 Hypergonadotropic hypogonadism Obligate (100%)
HP:0001256 Intellectual disability, mild Obligate (100%)
HP:0001513 Obesity Obligate (100%)
HP:0001634 Mitral valve prolapse Obligate (100%)
HP:0002162 Low posterior hairline Obligate (100%)
HP:0002705 High, narrow palate Obligate (100%)
HP:0002967 Cubitus valgus Obligate (100%)
HP:0004322 Short stature Obligate (100%)
HP:0010044 Short 4th metacarpal Obligate (100%)
HP:0000027 Azoospermia Frequent (79-30%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Frequent (79-30%)
HP:0002550 Absent facial hair Frequent (79-30%)
HP:0007464 Sparse facial hair 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