Symptomatic form of Coffin-Lowry syndrome in female carriers




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: 21

HPO ID Term Frequency
HP:0001176 Large hands Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0000232 Everted lower lip vermilion Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000445 Wide nose Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000674 Anodontia Occasional (29-5%)
HP:0000677 Oligodontia Occasional (29-5%)
HP:0000709 Psychosis Occasional (29-5%)
HP:0000716 Depressivity Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000768 Pectus carinatum Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001513 Obesity Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0007302 Bipolar affective disorder 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
RPS6KA3 ribosomal protein S6 kinase A3 6197