Disease #01370 (Spondyloepiphyseal dysplasia with congenital joint dislocations, OMIM:143095)

Official abbreviation -
Name Spondyloepiphyseal dysplasia with congenital joint dislocations
OMIM ID 143095
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CHST3
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Individuals

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00079372 - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - 0 - - Spondyloepiphyseal dysplasia with congenital joint dislocations at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet CHST3 CHST3 2 1 Johan den Dunnen
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