SHMT2

Clinical Characteristics for Families

Individuals with SHMT2 brain and heart developmental syndrome can have a characteristic and identifiable clinical phenotype that is consisted with:
•    Intellectual disability
•    Motor dysfunction in the form of spastic paraparesis (stiffness of the legs)
•    Ataxia (loss of muscle coordination)
•    Peripheral neuropathy
•    Congenital microcephaly
•    Dysmorphic features
      o    long palpebral fissures
      o    eversion of lateral third of lower eyelids
      o    arched eyebrows, long eyelashes
      o    thin upper lip
      o    long philtrum
      o    short fifth finger
      o    fleshy pads at the tips of the fingers
      o    mild 2-3 toe syndactyly
      o    low-set thumbs

Most have hypertrophic cardiomyopathy or atrial-septal defects, which tend to progress over time.
MRI revealed corpus callosum abnormalities in all patients and perisylvian polymicrogyria-like pattern.