Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia 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: 19

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0002781 Upper airway obstruction Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0008905 Rhizomelia Very frequent (99-80%)
HP:0000162 Glossoptosis Frequent (79-30%)
HP:0000407 Sensorineural hearing impairment Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0000882 Hypoplastic scapulae Frequent (79-30%)
HP:0000947 Dumbbell-shaped long bone Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002980 Femoral bowing Frequent (79-30%)
HP:0003016 Metaphyseal widening Frequent (79-30%)
HP:0003097 Short femur Frequent (79-30%)
HP:0011003 High myopia Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)


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
COL11A1 collagen type XI alpha 1 chain 1301