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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