Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia with multiple dislocations: See http://www.omim.org/entry/603546 ...1

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Symptoms of Spondyloepimetaphyseal dysplasia with multiple dislocations

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Spondyloepimetaphyseal dysplasia with multiple dislocations

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) Autosomal dominant inheritance (OMIM, Orphanet) Autosomal dominant inheritance (HPO) ...Source: GTR (NCBI/NIH)2 ...

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Causes

See also causal information:

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Names and Terminology

Other Names: Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type ...Source: GARD (NIH)3 ...

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References

  1. Source: Monarch Initiative
  2. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1863732/ 
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 9866/ spondyloepimetaphyseal-dysplasia-with-multiple-dislocations

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