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GTR Home > Conditions/Phenotypes > Namaqualand hip dysplasia

Namaqualand hip dysplasia

Synonyms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis; Osteoarthritis with mild chondrodysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. [from ORDO]

Available tests

72 tests are in the database for this condition.

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Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1
    Summary: collagen type II alpha 1 chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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