autosomal recessive intellectual developmental disorder 47

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43.

Signs and symptoms

• Global developmental delay
• Intellectual disability
• Poor speech
• Delayed speech and language development
• Focal impaired awareness seizure
• Generalized hypotonia
• Mitral valve prolapse