Maternal uniparental disomy of chromosome X

A uniparental disomy of maternal 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 mother is a carrier and specific phenotype depends on the inherited disorder.



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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: 26

HPO ID Term Frequency
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000914 Shield chest Very frequent (99-80%)
HP:0001010 Hypopigmentation of the skin Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001371 Flexion contracture Very frequent (99-80%)
HP:0001399 Hepatic failure Very frequent (99-80%)
HP:0001635 Congestive heart failure Very frequent (99-80%)
HP:0001838 Rocker bottom foot Very frequent (99-80%)
HP:0002162 Low posterior hairline Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002916 Abnormality of chromosome segregation Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0003186 Inverted nipples Very frequent (99-80%)
HP:0003550 Predominantly lower limb lymphedema Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0008193 Primary gonadal insufficiency Very frequent (99-80%)
HP:0100490 Camptodactyly of finger Very frequent (99-80%)
HP:0000027 Azoospermia Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex 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