Fryns-Smeets-Thiry syndrome




Input patient's signs and symptoms


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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: 19

HPO ID Term Frequency
HP:0000154 Wide mouth Very frequent (99-80%)
HP:0000179 Thick lower lip vermilion Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000322 Short philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0001166 Arachnodactyly Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001519 Disproportionate tall stature Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004326 Cachexia Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0006443 Patellar aplasia 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