Eye defects-arachnodactyly-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: 21

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000269 Prominent occiput Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000518 Cataract Very frequent (99-80%)
HP:0001166 Arachnodactyly Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001852 Sandal gap Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002974 Radioulnar synostosis Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004493 Craniofacial hyperostosis Very frequent (99-80%)
HP:0006487 Bowing of the long bones Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0009832 Abnormal distal phalanx morphology of finger Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)


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