Night blindness-skeletal anomalies-dysmorphism syndrome

This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).



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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: 23

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000508 Ptosis Very frequent (99-80%)
HP:0000512 Abnormal electroretinogram Very frequent (99-80%)
HP:0000545 Myopia Very frequent (99-80%)
HP:0000662 Nyctalopia Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0008046 Abnormal retinal vascular morphology Very frequent (99-80%)
HP:0200021 Down-sloping shoulders Very frequent (99-80%)
HP:0000366 Abnormality of the nose Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001100 Heterochromia iridis Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0100543 Cognitive impairment 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