Disease #05548 (SKS (Smith-Kingsmore syndrome (SKS)), OMIM:616638)

Official abbreviation SKS
Name Smith-Kingsmore syndrome (SKS)
OMIM ID 616638
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene MTOR
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2019-01-21 12:46:55 +01:00 (CET)
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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00218046 patient PubMed: Rodriguez-Garcia 2019, Journal: Rodriguez-Garcia 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - >13y - - - SKS, antiphospholipid syndrome, familial - MTOR MTOR 1 1 Francisco Martínez-Azorín
00431130 213269 - - F no Germany - - - - - SKS Seizure, Global developmental delay, Macrocephaly, Depressed nasal bridge, Wolff-Parkinson-White syndrome MTOR MTOR 1 1 Andreas Laner
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