17q21.31 microduplication syndrome

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.



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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: 25

HPO ID Term Frequency
HP:0000356 Abnormality of the outer ear Very frequent (99-80%)
HP:0000717 Autism Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000729 Autistic behavior Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0007018 Attention deficit hyperactivity disorder Frequent (79-30%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000574 Thick eyebrow Occasional (29-5%)
HP:0000664 Synophrys Occasional (29-5%)
HP:0000722 Obsessive-compulsive behavior Occasional (29-5%)
HP:0000823 Delayed puberty Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001852 Sandal gap 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