9q21.13 microdeletion syndrome




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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: 24

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0001627 Abnormal heart morphology Very frequent (99-80%)
HP:0002355 Difficulty walking Very frequent (99-80%)
HP:0002579 Gastrointestinal dysmotility Very frequent (99-80%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000637 Long palpebral fissure Frequent (79-30%)
HP:0000750 Delayed speech and language development Frequent (79-30%)
HP:0001385 Hip dysplasia Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002714 Downturned corners of mouth Frequent (79-30%)
HP:0003186 Inverted nipples Frequent (79-30%)
HP:0003422 Vertebral segmentation defect Frequent (79-30%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0012811 Wide nasal ridge Frequent (79-30%)
HP:0030809 Abnormal tongue morphology Frequent (79-30%)
HP:0000729 Autistic behavior Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001363 Craniosynostosis Occasional (29-5%)
HP:0002282 Gray matter heterotopia Occasional (29-5%)
HP:0003396 Syringomyelia Occasional (29-5%)
HP:0010442 Polydactyly 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