Ectrodactyly-spina bifida-cardiopathy 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: 6

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000364 Hearing abnormality Very frequent (99-80%)
HP:0002475 Myelomeningocele Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0001629 Ventricular septal defect 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