Paternal uniparental disomy of chromosome X

A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 18

HPO ID Term Frequency
HP:0000054 Micropenis Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000789 Infertility Very frequent (99-80%)
HP:0000914 Shield chest Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002916 Abnormality of chromosome segregation Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006610 Wide intermamillary distance Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0010049 Short metacarpal Very frequent (99-80%)
HP:0011343 Moderate global developmental delay Very frequent (99-80%)
HP:0100853 Hypoplastic areola Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay 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