Disease #00380

Official abbreviation SRTD-3
Name dysplasia, short-rib thoracic, type 3, with or without polydactyly (SRTD-3)
OMIM ID 613091
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 7
Associated with 1 gene DYNC2H1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00016506 - PubMed: Ellard 2015, Journal: Ellard 2015 5 affected fetuses, from the same couple (unaffected heterozygous carrier), all terminated at 15-20 weeks gestation - no United Kingdom (Great Britain) - 00y00m00d 0 - - SRTD-3 - DYNC2H1 DYNC2H1 2 5 Hana Lango-Allen
00058511 - - - M no Brazil - - 0 - - SRTD-3 - DYNC2H1 DYNC2H1 2 1 Karina Silveira
00058520 - - - F ? Brazil - - 0 - - SRTD-3 - IFT80 IFT80 1 1 Karina Silveira
00058521 - - - M no Brazil - - 0 - - SRTD-3 - DYNC2H1 DYNC2H1 2 1 Karina Silveira
00058522 - - - F no Brazil - - 0 - - SRTD-3 - DYNC2H1 DYNC2H1 2 1 Karina Silveira
00058523 - - - M no Brazil - - 0 - - SRTD-1, SRTD-3 - DYNC2H1 DYNC2H1 2 1 Karina Silveira
00095116 - - - F ? - - - 0 Yes - SRTD-3 - - DYNC2H1 2 1 Karen Stals
00132078 9 - - M no Brazil - - 0 - - SRTD-3 - DYNC2H1, IFT80, WDR34 DYNC2H1 2 1 Karina Silveira
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