Maternal uniparental disomy of chromosome 9

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother 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: 21

HPO ID Term Frequency
HP:0000276 Long face Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001558 Decreased fetal movement Very frequent (99-80%)
HP:0001795 Hyperconvex nail Very frequent (99-80%)
HP:0002546 Incomprehensible speech Very frequent (99-80%)
HP:0002751 Kyphoscoliosis Very frequent (99-80%)
HP:0002999 Patellar dislocation Very frequent (99-80%)
HP:0003070 Elbow ankylosis Very frequent (99-80%)
HP:0003089 Hamstring contractures Very frequent (99-80%)
HP:0003468 Abnormal vertebral morphology Very frequent (99-80%)
HP:0011968 Feeding difficulties Very frequent (99-80%)
HP:0040188 Osteochondrosis Very frequent (99-80%)
HP:0000851 Congenital hypothyroidism Occasional (29-5%)
HP:0007973 Retinal dysplasia Occasional (29-5%)


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