Disease #01725 (CSTLO (Costello syndrome (CSTLO, myopathy with excess of muscle spindles )), OMIM:218040)

Official abbreviation CSTLO
Name Costello syndrome (CSTLO, myopathy with excess of muscle spindles )
OMIM ID 218040
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene HRAS
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

5 entries on 1 page. Showing entries 1 - 5.
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00081027 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSTLO Costello syndrome (OMIM:218040) HRAS HRAS 1 1 Daniel Trujillano
00081037 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - CSTLO Costello syndrome (OMIM:218040) HRAS HRAS 1 1 Daniel Trujillano
00306130 63 - - F - China - - - - - CSTLO - HRAS HRAS 1 1 Sha Hong
00383171 - - - - - - - - - - - CSTLO - HRAS HRAS 1 1 Yoko Aoki
00410435 Patient 9 - - F no China - - - - - CSTLO - HRAS HRAS 1 1 Simin Zheng
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