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Table 1 Clinical Findings Associated with MTOR E1799Ka

From: Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

  Proband Sibling Baynam 1 Baynam 2 Baynam 3
Lgab + + - + +
Postnatal height/weight Normal Normal Normal Normal Unknown
Macrocephaly +5SD +5SD >+3SD >+3SD >+3SD
MRI Megalencephaly Megalencephaly Mild ventricular prominence Megalencephaly Unknown
Hypogenesis of corpus callosum Perisylvian polymicrogyria,
Small pons & medulla Hypogenesis of corpus callosum
Gray matter heterotopia
Intellectual disability Mild disability/autism Moderate disability/autism Hyperactive/speech delay Marked global delay Marked global delay
Seizures - - + + +
Eye Iris coloboma Iris coloboma - - -
Noonan-like face - - + + +
Small chest/large abdomen - - + + +
  1. aThis table does not include the case of an additional patient who harbors MTOR E1799K (Ghahramani et al., ACMG 2015) due to lack of access to the patient's detailed clinical information
  2. bLarge for gestational age