Dyggve-Melchior-Clausen disease

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).



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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: 31

HPO ID Term Frequency
HP:0000768 Pectus carinatum Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0002857 Genu valgum Very frequent (99-80%)
HP:0002867 Abnormality of the ilium Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000280 Coarse facial features Frequent (79-30%)
HP:0000340 Sloping forehead Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0003019 Abnormality of the wrist Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0003311 Hypoplasia of the odontoid process Frequent (79-30%)
HP:0003416 Spinal canal stenosis Frequent (79-30%)
HP:0003521 Disproportionate short-trunk short stature Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0000717 Autism Occasional (29-5%)
HP:0003834 Shoulder dislocation Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity 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
DYM dymeclin 54808