Disease #01262 (DA9;CCA (arthrogryposis, distal, type 9 (DA-9, contractural arachnodactyly, congenital (CCA))), OMIM:121050)

Official abbreviation DA9;CCA
Name arthrogryposis, distal, type 9 (DA-9, contractural arachnodactyly, congenital (CCA))
OMIM ID 121050
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 4
Phenotype entries for this disease 3
Associated with 1 gene FBN2
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00244858 ED2161 Wischmeijer et al, 2019 submitted - M no Morocco - - 0 - - DA9;CCA - FBN2 FBN2 1 1 Marco Ritelli
00306189 87 - - F - China - - - - - DA9;CCA - FBN2 FBN2 1 1 Sha Hong
00324659 Pat1 Not yet published Unaffected heterozygous parents F no Viet Nam Asian - - - - DA9;CCA Arachnodactyly, contractures, ear anomalies, tall slender stature, congenital cardiac defect, scoliosis, cleft spine FBN2 FBN2 2 1 Katja Kloth
00399283 177596 - - F no Germany - - 0 - - DA9;CCA Spastic diplegia, Abnormality of the spinal cord, Paralysis, Tip-toe gait FBN2 FBN2 1 1 Andreas Laner
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