Paternal uniparental disomy of chromosome 5

Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.



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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: 13

HPO ID Term Frequency
HP:0000075 Renal duplication Very frequent (99-80%)
HP:0001090 Abnormally large globe Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001290 Generalized hypotonia Very frequent (99-80%)
HP:0001561 Polyhydramnios Very frequent (99-80%)
HP:0001684 Secundum atrial septal defect Very frequent (99-80%)
HP:0002654 Multiple epiphyseal dysplasia Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0004991 Rhizomelic arm shortening Very frequent (99-80%)
HP:0006385 Short lower limbs Very frequent (99-80%)
HP:0010593 Abnormality of fibular epiphyses Very frequent (99-80%)
HP:0011327 Posterior plagiocephaly Very frequent (99-80%)
HP:0100753 Schizophrenia 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