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.
SHMT2