Expanding the phenotype of MTOR -related disorders and the Smith-Kingsmore syndrome
Open Access
- 1 June 2020
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Neurology Genetics
- Vol. 6 (3), e432
- https://doi.org/10.1212/nxg.0000000000000432
Abstract
Heterozygous germline mutations in mammalian target of rapamycin (MTOR) (OMIM 601231) are known to underlie Smith-Kingsmore syndrome (SKS; OMIM 616638), an infrequent entity with autosomal dominant inheritance, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (ORPHA 457485).(1) Among the clinical features of SKS, the most common features include intellectual disability, macrocephaly, epilepsy, and facial dysmorphism. The aim of this case is to raise awareness of a distinct phenotypical presentation of SKS manifesting with bilateral cataracts and no history of seizures.Keywords
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