Disease #00340 (JDSSCDHD (joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD)), OMIM:245600)

Official abbreviation JDSSCDHD
Name joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD)
OMIM ID 245600
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene B3GAT3
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00016301 - PubMed: Baasanjav 2011 4-generation family, 4 affecteds, unaffected carrier parents - yes United Arab Emirates - - 0 - - JDSSCDHD see paper B3GAT3 B3GAT3 1 4 Johan den Dunnen
00235371 - Ritelli et al., submitted 2019 - F no (Italy) - 16y 0 - - JDSSCDHD - - B3GAT3 2 1 Marco Ritelli
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