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

Official abbreviation SEDCJD
Name Spondyloepiphyseal dysplasia with congenital joint dislocations
OMIM ID 143095
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene CHST3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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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 - - - - - SEDCJD 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
00401667 - - - - yes Pakistan - - - - - SEDCJD - CHST3 CHST3 1 1 Noor-ul-ain Ain
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