1p21.3 microdeletion syndrome

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).



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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:0000483 Astigmatism Very frequent (99-80%)
HP:0000504 Abnormality of vision Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001256 Intellectual disability, mild Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001513 Obesity Very frequent (99-80%)
HP:0100738 Abnormal eating behavior Very frequent (99-80%)
HP:0100962 Shyness Very frequent (99-80%)
HP:0400004 Long ear Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000293 Full cheeks Frequent (79-30%)
HP:0000455 Broad nasal tip Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000729 Autistic behavior Frequent (79-30%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0000154 Wide mouth Occasional (29-5%)
HP:0000347 Micrognathia Occasional (29-5%)
HP:0000718 Aggressive behavior Occasional (29-5%)
HP:0000742 Self-mutilation Occasional (29-5%)
HP:0001382 Joint hypermobility Occasional (29-5%)
HP:0100716 Self-injurious behavior Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
DPYD dihydropyrimidine dehydrogenase 1806