The disease affected mainly the central nervous system with the following features reported:
• Intellectual disability
• Seizures ( less common)
• ADHD
Dysmorphic facial features (some patients), including:
• High anterior hairline
• Large eyes
• Deeply set eyes
• Upslanted palpebral fissures
• Depressed nasal bridge
• Thin upper lip
• Obtuse mandibular angle
• Large ears
METTL23