Disease #00715 (SRTD9;MZSDS (dysplasia, short-rib thoracic, type 9, with/without polydactyly (SRTD9);syndrome, Mainzer-Saldino (MZSDS)), OMIM:266920)

Official abbreviation SRTD9;MZSDS
Name dysplasia, short-rib thoracic, type 9, with/without polydactyly (SRTD9);syndrome, Mainzer-Saldino (MZSDS)
OMIM ID 266920
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene IFT140
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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00107873 MSS2 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - - - - SRTD9;MZSDS - IFT140 IFT140 3 1 Hannah Mitchison
00107878 MSS1 PubMed: Schmidts 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - - - - - SRTD9;MZSDS - IFT140 IFT140 2 1 Hannah Mitchison
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