autosomal recessive intellectual developmental disorder 57

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13.

Signs and symptoms

• Hypertonia
• Global developmental delay
• Intellectual disability
• Generalized hypotonia
• Delayed ability to walk
• Seizure
• Absent speech
• Axial hypotonia
• Hyperreflexia
• Autistic behavior