Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The disorder is also namend MINDS syndrome which is the acronym of macrocephaly, intellectual disability, neurodevelopmental disorder, and small thorax. It is an autosomal dominant disorder caused by mutations of the MTOR gene.
Hereditary malformations
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Bohring-Opitz syndrome
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Congenital abnormalities of the kidney and urinary tract
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Inborn skeletal malformations
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Smith-Kingsmore syndrome
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MTOR
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Spondyloepiphyseal dysplasia tarda
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| 1. |
Lee JH et al. (2012) De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 
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| 2. |
Baynam G et al. (2015) A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.
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| 3. |
Mroske C et al. (2015) Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
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| 4. |
Moosa S et al. (2017) Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.
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| 5. |
Møller RS et al. (2016) Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.
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