Disorder of sex development-intellectual disability syndrome

Verloes-Gillerot-Fryns syndrome is a rare association of malformations.



Input patient's signs and symptoms


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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: 23

HPO ID Term Frequency
HP:0000046 Scrotal hypoplasia Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000271 Abnormality of the face Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002808 Kyphosis Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0003298 Spina bifida occulta Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0008625 Severe sensorineural hearing impairment Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0010720 Abnormal hair pattern Very frequent (99-80%)


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